Abstract
It is widely accepted that male determination in man depends on the presence of a factor or factors on the Y chromosome. These factors may be localised within the Y chromosome through the study of structural anomalies of the Y. A thorough review of seven different structural anomalies of the Y is presented: dicentric Y chromosomes, Y isochromosomes, ring Y chromosomes, Y; autosome, Y;X, and Y;Y translocations, and Y deletions. The evidence from these studies indicates that a gene or genes on the short arm or the Y near the centromere play a crucial role in the development of the testes. A few studies indicate that one or more factors on the long arm of the Y may also influence testicular development. If such a factor is present on the long arm, then it too must be very near the centromere. The theory that separate genes independently control the initial development and maturation of the tests (on the long and short arms of the Y, respectively) may be premature. Recently proposed arguments in its favour are examined. Some evidence also indicates the presence of a fertility factor on the non-fluorescent segment of the long arm. Relevant information on the H-Y antigen is discussed.
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Selected References
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- Alexander D. S., Soudek D., Laraya P. Unstable dicentric iso(Yq) chromosome in a pseudohermaphrodite. Am J Med Genet. 1978;1(3):265–269. doi: 10.1002/ajmg.1320010302. [DOI] [PubMed] [Google Scholar]
- Andrews J. Streak gonads and the Y chromosome. J Obstet Gynaecol Br Commonw. 1971 May;78(5):448–457. doi: 10.1111/j.1471-0528.1971.tb00300.x. [DOI] [PubMed] [Google Scholar]
- Angell R., Giannelli F., Polani P. E. Three dicentric Y chromosomes. Ann Hum Genet. 1970 Jul;34(1):39–50. doi: 10.1111/j.1469-1809.1970.tb00218.x. [DOI] [PubMed] [Google Scholar]
- Armandares S., Salamanca F., Cos J., Chavarria C. 45,X/46,X,dic(Yq) mosaicism and mixed gonadal dysgenesis. Case report and review of the literature. Ann Genet. 1977 Dec;20(4):269–272. [PubMed] [Google Scholar]
- Armendares S., Buentello L., Salamanca F., Cantu-Garza J. M. A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome. J Med Genet. 1972 Mar;9(1):96–100. doi: 10.1136/jmg.9.1.96. [DOI] [PMC free article] [PubMed] [Google Scholar]
- BARR M. L., SHAVER E. L., CARR D. H., PLUNKETT E. R. An unusual sex chromatin pattern in three mentally deficient subjects. J Ment Defic Res. 1959 Dec;3:78–87. doi: 10.1111/j.1365-2788.1959.tb00921.x. [DOI] [PubMed] [Google Scholar]
- Balícek P., Zizka J. Mozaiková forma delece dlouhého raménka chromosomu Y u Downova syndromu. Cas Lek Cesk. 1976 Jan 9;115(1):9–13. [PubMed] [Google Scholar]
- Barbarino A., Serra A., Menini E., Pizzolato G., Moneta E., Pasargiklian E., de Marinis L., Bova R. Comparative studies in two cases of testicular feminization syndrome, one with and the other without the fluorescent distal band q12 of the Y. Hum Genet. 1978 Jun 9;42(2):119–127. doi: 10.1007/BF00283631. [DOI] [PubMed] [Google Scholar]
- Bengtsson B., Gustavson K. H., Reuterskiöld G., Santesson B., Ahnsén S. Male pseudohermaphroditism with 45X-46XYq- mosaicism in a pair of monozygotic twins. Clin Genet. 1974;5(2):133–143. doi: 10.1111/j.1399-0004.1974.tb01675.x. [DOI] [PubMed] [Google Scholar]
- Benitez J., Rivera L., Ramos C., Tejedor E., Sanchez-Cascos A. Translocation of a supernumerary Y to a 15: study of six cases (three males and three females) in three generations. Hum Genet. 1979 Apr 27;48(2):191–194. doi: 10.1007/BF00286903. [DOI] [PubMed] [Google Scholar]
- Berger R., Lejeune J., Roy J. Trisomie 21 T Y metacentrique. Ann Genet. 1970 Sep;13(3):187–189. [PubMed] [Google Scholar]
- Berger R., Relier J. P., Salmon C., Minkowski A. X-XY mosaicism with short y. Clin Genet. 1974;5(3):211–217. [PubMed] [Google Scholar]
- Bernstein R., Wagner J., Isdale J., Nurse G. T., Lane A. B., Jenkins T. X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies. J Med Genet. 1978 Dec;15(6):466–474. doi: 10.1136/jmg.15.6.466. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Bobrow M., Pearson P. L., Pike M. C., el-Alfi O. S. Length variation in the quinacrine-binding segment of human Y chromosomes of different sizes. Cytogenetics. 1971;10(3):190–198. doi: 10.1159/000130138. [DOI] [PubMed] [Google Scholar]
- Bochkov N. P., Kuleshov N. P., Chebotarev A. N., Alekhin V. I., Midian S. A. Population cytogenetic investigation of newborns in Moscow. Humangenetik. 1974 May 17;22(2):139–152. doi: 10.1007/BF00278453. [DOI] [PubMed] [Google Scholar]
- Boczkowski K. Sex determination and gonadal differentiation in man. A unifying concept of normal and abnormal sex development. Clin Genet. 1971;2(6):379–386. doi: 10.1111/j.1399-0004.1971.tb00300.x. [DOI] [PubMed] [Google Scholar]
- Borgaonkar D. S., Hollander D. H. Quinacrine fluorescence of the human Y chromosome. Nature. 1971 Mar 5;230(5288):52–52. doi: 10.1038/230052a0. [DOI] [PubMed] [Google Scholar]
- Borgaonkar D. S., McKusick V. A., Herr H. M., de los Cobos L., Yoder O. C. Constancy of the length of human Y chromosome. Ann Genet. 1969 Dec;12(4):262–264. [PubMed] [Google Scholar]
- Borgaonkar D. S., Sroka B. M., Flores M. Letter: Y-to-X translocation in a girl. Lancet. 1974 Jan 12;1(7846):68–69. doi: 10.1016/s0140-6736(74)93071-2. [DOI] [PubMed] [Google Scholar]
- Boschetti R., Gilbertas A., Noel B., Quack B. Pseudohermaphrodisme masculin et mosaïque 45,X-46,XYdic-46,XXq. Ann Genet. 1968 Mar;11(1):62–65. [PubMed] [Google Scholar]
- Bostock C. J., Gosden J. R., Mitchell A. R. Localisation of a male-specific DNA fragment to a sub-region of the human Y chromosome. Nature. 1978 Mar 23;272(5651):324–328. doi: 10.1038/272324a0. [DOI] [PubMed] [Google Scholar]
- Bridges C. B. TRIPLOID INTERSEXES IN DROSOPHILA MELANOGASTER. Science. 1921 Sep 16;54(1394):252–254. doi: 10.1126/science.54.1394.252. [DOI] [PubMed] [Google Scholar]
- Brosseau G E. Genetic Analysis of the Male Fertility Factors on the Y Chromosome of Drosophila Melanogaster. Genetics. 1960 Mar;45(3):257–274. doi: 10.1093/genetics/45.3.257. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Buchanan P. D., Wyandt H. E., D'Ercole A. J., Rao K. W., Hartsell M. L. A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite. Cytogenet Cell Genet. 1976;17(1):42–50. doi: 10.1159/000130686. [DOI] [PubMed] [Google Scholar]
- Burgoyne P. S. Evidence for an association between univalent Y chromosomes and spermatoycte loss in XYY mice and men. Cytogenet Cell Genet. 1979;23(1-2):84–89. doi: 10.1159/000131307. [DOI] [PubMed] [Google Scholar]
- Buys C. H., Anders G. J., Borkent-Ypma J. M., Blenkers-Platter J. A., van der Hoek-van der Veen A. Y. Familial transmission of a translocation Y/14. Hum Genet. 1979;53(1):125–127. doi: 10.1007/BF00289465. [DOI] [PubMed] [Google Scholar]
- Bök J. A., Eilon B., Halbrecht I., Komlos L., Shabtay F. Isochromosome Y (46,X,i(Yq)) and female phenotype. Clin Genet. 1973;4(5):410–414. doi: 10.1111/j.1399-0004.1973.tb01168.x. [DOI] [PubMed] [Google Scholar]
- Bühler E. M., Bühler U. K., Tsuchimoto T., Stalder G. R. Non-fluorescent Y-chromosome. Helv Paediatr Acta. 1974 Nov;29(5):447–456. [PubMed] [Google Scholar]
- Bühler E. M., Frey R., Müller H., Joegelin M., Stalder G. R. Fluorescence pattern of a dicentric Y. Humangenetik. 1971;12(2):170–172. doi: 10.1007/BF00291474. [DOI] [PubMed] [Google Scholar]
- Bühler E. M., Müller H., Stalder G. R., Werder E. A strongly fluorescing abnormal chromosome in a malformed child. Humangenetik. 1971;12(1):64–66. doi: 10.1007/BF00291035. [DOI] [PubMed] [Google Scholar]
- Bühler E. M., Tsuchimoto T., Bühler U. K., Stalder G. R. Eine seltene Strukturanomalie des Y-chromosoms: ring-Y. Arch Genet (Zur) 1974;47(1):52–59. [PubMed] [Google Scholar]
- CONEN P. E., BAILEY J. D., ALLEMANG W. H., THOMPSON D. W., EZRIN C. A probable partial deletion of the Y chromosome in an intersex patient. Lancet. 1961 Aug 5;2(7197):294–295. doi: 10.1016/s0140-6736(61)90582-7. [DOI] [PubMed] [Google Scholar]
- Caspersson T., Hultén M., Jonasson J., Lindsten J., Therkelsen A., Zech L. Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaics. Hereditas. 1971;68(2):317–324. doi: 10.1111/j.1601-5223.1971.tb02407.x. [DOI] [PubMed] [Google Scholar]
- Chaganti R. S., German J. Human male infertility, probably genetically determined, due to defective meiosis and spermatogenic arrest. Am J Hum Genet. 1979 Sep;31(5):634–641. [PMC free article] [PubMed] [Google Scholar]
- Chandley A. C., Edmond P., Christie S., Gowans L., Fletcher J., Frackiewicz A., Newton M. Cytogenetics and infertility in man. I. Karyotype and seminal analysis: results of a five-year survey of men attending a subfertility clinic. Ann Hum Genet. 1975 Oct;39(2):231–254. doi: 10.1111/j.1469-1809.1975.tb00126.x. [DOI] [PubMed] [Google Scholar]
- Chandley A. C., Edmond P. Meiotic studies on a subfertile patient with a ring Y chromosome. Cytogenetics. 1971;10(4):295–304. doi: 10.1159/000130149. [DOI] [PubMed] [Google Scholar]
- Chandley A. C., Maclean N., Edmond P., Fletcher J., Watson G. S. Cytogenetics and infertility in man. II. Testicular histology and meiosis. Ann Hum Genet. 1976 Nov;40(2):165–176. doi: 10.1111/j.1469-1809.1976.tb00176.x. [DOI] [PubMed] [Google Scholar]
- Chen A. T., Falek A. Cytological evidence for the association of the short arms of the X and Y chromosomes in the human male. Nature. 1971 Aug 20;232(5312):555–556. doi: 10.1038/232555a0. [DOI] [PubMed] [Google Scholar]
- Christensen K. R., Nielsen J. Partial XYY syndrome. Humangenetik. 1971;12(4):323–329. doi: 10.1007/BF00278052. [DOI] [PubMed] [Google Scholar]
- Cohen M. M., MacGillivray M. H., Capraro V. J., Aceto T. A. Human dicentric Y chromosomes. Case report and review of the literature. J Med Genet. 1973 Mar;10(1):74–79. doi: 10.1136/jmg.10.1.74. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cohen M. M., Shaw M. W., MacCluer J. W. Racial differences in the length of the human Y chromosome. Cytogenetics. 1966;5(1):34–52. doi: 10.1159/000129883. [DOI] [PubMed] [Google Scholar]
- Cooke H. J., Noel B. Confirmation of Y/autosome translocation using recombinant DNA. Hum Genet. 1979;50(1):39–44. doi: 10.1007/BF00295587. [DOI] [PubMed] [Google Scholar]
- Curtis D. J. Meiotic chromosomes in an infertile male with an unbalanced Y/13 translocation. Hum Genet. 1977 Jul 26;37(3):249–254. doi: 10.1007/BF00393605. [DOI] [PubMed] [Google Scholar]
- Dallapiccola B., Chessa L., Vignetti P., Ferrante E., Gandini E. Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12). Hum Genet. 1979;50(1):45–49. doi: 10.1007/BF00295588. [DOI] [PubMed] [Google Scholar]
- Davidenkova E. F., Verlinskaja D. K., Mashkova M. V. Structural aberrations of the X chromosome in man. Hum Genet. 1978 Apr 24;41(3):269–279. doi: 10.1007/BF00284761. [DOI] [PubMed] [Google Scholar]
- Desjeux J. F., Gagnon J., Leboeuf G., St-Rome G., Ducharme J. R. Huit observations de mosaïque XO-XY, dont une XO-XYq--avec gonadoblastome. Union Med Can. 1969 Oct;98(10):1667–1685. [PubMed] [Google Scholar]
- Develing A. J., Conte F. A., Epstein C. J. A Y-autosome translocation 46,X,t(Yq-7q+) associated with multiple congenital anomalies. J Pediatr. 1973 Mar;82(3):495–498. doi: 10.1016/s0022-3476(73)80132-5. [DOI] [PubMed] [Google Scholar]
- Devictor-Vuillet M., Luciani J. M., Carlon N., Stahl A. Anomalies de structure et rôle du chromosome Y chez l'homme. Pathol Biol (Paris) 1971 Mar;19(5):231–249. [PubMed] [Google Scholar]
- Dewhurst C. J. The XY female. Am J Obstet Gynecol. 1971 Mar 1;109(5):675–688. doi: 10.1016/0002-9378(71)90753-8. [DOI] [PubMed] [Google Scholar]
- Dewhurst C. J. The XY female. J Obstet Gynaecol Br Commonw. 1967 Jun;74(3):353–366. doi: 10.1111/j.1471-0528.1967.tb03959.x. [DOI] [PubMed] [Google Scholar]
- Dewhurst C. J., Warrack A. J., Blank C. E., Bishop A. M., Heslop W. B. Chromosome mosaicism in a hermaphrodite. J Med Genet. 1965 Dec;2(4):246–250. doi: 10.1136/jmg.2.4.246. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Dokumov S. I., Spasov S. A., Mladenovsky V. D. Gonadal dysgenesis associated with a very rare XO-X+ "fragment" chromosomal mosaicism (a case report). Gynaecologia. 1967;164(2):83–88. [PubMed] [Google Scholar]
- Donahoe P. K., Crawford J. D., Hendren W. H. True hermaphroditism: a clinical description and a proposed function for the long arm of the Y chromosome. J Pediatr Surg. 1978 Jun;13(3):293–301. doi: 10.1016/s0022-3468(78)80403-5. [DOI] [PubMed] [Google Scholar]
- Dosik H., Wachtei S. S., Khan F., Spergel G., Koo G. C. Y-chromosomal genes in a phenotypic male with a 46XX karyotype. JAMA. 1976 Nov 29;236(22):2505–2508. [PubMed] [Google Scholar]
- Dumars K. W., Fialko G., Larson E. E trisomy phenotype associated with small metacentric chromosome and a familial Y-22 translocation. Birth Defects Orig Artic Ser. 1976;12(5):97–104. [PubMed] [Google Scholar]
- Dumars K. W., Reed P., Lawce H. J. X-autosome translocation with a 47,XXXY qs,t(9p-;Xq+) karyotype. Birth Defects Orig Artic Ser. 1975;11(5):247–253. [PubMed] [Google Scholar]
- Dutrillaux B., Gueguen J. Etude méiotique et mitotique dans un cas de translocation t(5;Y) Humangenetik. 1975;27(3):241–245. doi: 10.1007/BF00278352. [DOI] [PubMed] [Google Scholar]
- Evans H. J., Buckton K. E., Spowart G., Carothers A. D. Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange. Hum Genet. 1979 May 23;49(1):11–31. doi: 10.1007/BF00277683. [DOI] [PubMed] [Google Scholar]
- FERGUSON-SMITH M. A., ALEXANDER D. S., BOWEN P., GOODMAN R. M., KAUFMANN B. N., JONES H. W., Jr, HELLER R. H. CLINICAL AND CYTOGENETICAL STUDIES IN FEMALE GONADAL DYSGENESIS AND THEIR BEARING ON THE CAUSE OF TURNER'S SYNDROME. Cytogenetics. 1964;3:355–383. doi: 10.1159/000129827. [DOI] [PubMed] [Google Scholar]
- FERRIER P., GARTLER S. M., WAXMAN S. H., SHEPARD T. H., 2nd Abnormal sexual development associated with sex chromosome mosaicism. Report of three cases. Pediatrics. 1962 May;29:703–713. [PubMed] [Google Scholar]
- FORD C. E., JONES K. W., POLANI P. E., DE ALMEIDA J. C., BRIGGS J. H. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet. 1959 Apr 4;1(7075):711–713. doi: 10.1016/s0140-6736(59)91893-8. [DOI] [PubMed] [Google Scholar]
- FRACCARO M., BOTT M. G., SALZANO F. M., RUSSELL R. W., CRANSTON W. I. Triple chromosomal mosaic in a woman with clinical evidence of a masculinisation. Lancet. 1962 Jun 30;1(7244):1379–1381. doi: 10.1016/s0140-6736(62)92489-3. [DOI] [PubMed] [Google Scholar]
- FRACCARO M., KAIJSER K., LINDSTEN J. A child with 49 chromosomes. Lancet. 1960 Oct 22;2(7156):899–902. doi: 10.1016/s0140-6736(60)91963-2. [DOI] [PubMed] [Google Scholar]
- Fabris C., Franceschini P., Bogetti G., Ponzone A. Sex chromosome anomalies detection and fluorescence. Acta Paediatr Scand. 1973 May;62(3):307–308. doi: 10.1111/j.1651-2227.1973.tb08108.x. [DOI] [PubMed] [Google Scholar]
- Fass B., Kaplan S., Lippe B., Sparkes R. S. Inconsistent expression of both centromeres of a dicentric Y chromosome in a child with ambiguous external genitalia. J Med Genet. 1978 Jun;15(3):232–236. doi: 10.1136/jmg.15.3.232. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Federman D. D., Davidoff F. M., Ouellette E. Presumptive Y/D translocation in mixed gonadal dysgenesis. J Med Genet. 1967 Mar;4(1):36–40. doi: 10.1136/jmg.4.1.36. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ferenczy A., Richart R. M., Miller O. J. Gonadoblastoma occurring in a female with XO-XY fragment gonadal dysgenesis. Am J Obstet Gynecol. 1971 Feb 15;109(4):564–569. doi: 10.1016/0002-9378(71)90630-2. [DOI] [PubMed] [Google Scholar]
- Ferguson-Smith M. A., Boyd E., Ferguson-Smith M. E., Pritchard J. G., Yusuf A. F., Gray B. Isochromosome for long arm of Y chromosome in patient with Turner's syndrome and sex chromosome mosaicism (45,X-46,XYqi). J Med Genet. 1969 Dec;6(4):422–425. doi: 10.1136/jmg.6.4.422. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ferrier P. E., Ferrier S. A., Bill A. H., Jr A male pseudohermaphrodite with a dicentric Y chromosome. Autoradiographic study. Humangenetik. 1968;6(2):131–141. doi: 10.1007/BF00297721. [DOI] [PubMed] [Google Scholar]
- Fineman R. M., Kidd K. K., Johnson A. M., Breg W. R. Increased frequency of heterozygotes for alpha1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21. Nature. 1976 Mar 25;260(5549):320–321. doi: 10.1038/260320a0. [DOI] [PubMed] [Google Scholar]
- Flannery E. P., Dillon D. E., Freeman M. V., Levy J. D., D'Ambrosio U., Bedynek J. L. Eosinophilic leukemia with fibrosing endocarditis and short Y chromosome. Ann Intern Med. 1972 Aug;77(2):223–228. doi: 10.7326/0003-4819-77-2-223. [DOI] [PubMed] [Google Scholar]
- Fonatschi C., Flatz S. D., Freymann R. Non-fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism. Clin Genet. 1977 Mar;11(3):235–240. doi: 10.1111/j.1399-0004.1977.tb01306.x. [DOI] [PubMed] [Google Scholar]
- Forabosco A., Carratu A., Assuma M., De Pol A., Dutrillaux B., Cheli E. Male with 45,X karyotype. Clin Genet. 1977 Aug;12(2):97–100. doi: 10.1111/j.1399-0004.1977.tb00908.x. [DOI] [PubMed] [Google Scholar]
- Ford C. E. Mosaics and chimaeras. Br Med Bull. 1969 Jan;25(1):104–109. doi: 10.1093/oxfordjournals.bmb.a070658. [DOI] [PubMed] [Google Scholar]
- Fraccaro M., Lindsten J., Klinger H. P., Tiepolo L., Bergstrand C. G., Herrlin K. M., Livaditis A., Pehrson M., Tillinger K. G. Cytogenetical and clinical investigations in four subjects with anomalies of sexual development. Science. 1967 Jan 13;29(3):281–304. doi: 10.1111/j.1469-1809.1966.tb00523.x. [DOI] [PubMed] [Google Scholar]
- Francke U. Cytogenetics and somatic cell genetics: the impact of chromosome banding. Birth Defects Orig Artic Ser. 1977;13(6):79–103. [PubMed] [Google Scholar]
- Frey R. O., Bühler E. M., Bühler U. K., Stalder G. R. 45,X/46,XYq dic-Geschlechtschromosomenmosaik. Humangenetik. 1975;27(2):81–90. [PubMed] [Google Scholar]
- Fried K., Rosenblatt M., Varsano D. A boy with 46, X, del, Y, due to a de nove mutation. Hum Hered. 1975;25(6):472–476. doi: 10.1159/000152762. [DOI] [PubMed] [Google Scholar]
- Friedrich U., Nielsen J. Presumptive Y-15 and Y-22 translocation in two families. Hereditas. 1972;71(2):339–342. doi: 10.1111/j.1601-5223.1972.tb01031.x. [DOI] [PubMed] [Google Scholar]
- Fryns J. P., Cassiman J. J., Van den Berghe H. Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro. Hum Genet. 1978 Nov 16;44(3):349–355. doi: 10.1007/BF00394301. [DOI] [PubMed] [Google Scholar]
- Fründ S., Koske-Westphal T., Fuchs-Mecke S., Passarge E. Quinacrine mustard fluorescence of a second Y chromosome in a Y-autosomal translocation. Humangenetik. 1972;14(2):133–136. doi: 10.1007/BF00273297. [DOI] [PubMed] [Google Scholar]
- Genest P. A human satellited Y chromosome with a probably illegitimate paternal origin. Can Med Assoc J. 1972 Dec 23;107(12):1205–1206. [PMC free article] [PubMed] [Google Scholar]
- Genest P. An eleven-generation satellited Y chromosome. Lancet. 1972 May 13;1(7759):1073–1073. doi: 10.1016/s0140-6736(72)91258-5. [DOI] [PubMed] [Google Scholar]
- Genest P., Bouchard M., Bouchard J. A satellited human Y chromosome: an evidence of autosome gonosome translocation. A preliminary note. Can J Genet Cytol. 1967 Sep;9(3):589–595. doi: 10.1139/g67-063. [DOI] [PubMed] [Google Scholar]
- Genest P., Laberge C., Poty J., Gagné R., Bouchard M. Transmission d'un petit Y durant 11 générations dans une lignée familiale. Ann Genet. 1970 Dec;13(4):233–238. [PubMed] [Google Scholar]
- Genest P., Lejeune J. Recherche sur l'origine d'un petit chromosome Y multicentenaire. Ann Genet. 1972 Mar;15(1):51–53. [PubMed] [Google Scholar]
- Genest P. Origine probable d'un chromosome y à satellites trouvé dans une famille canadienne-française. Union Med Can. 1973 Dec;102(12):2470–2472. [PubMed] [Google Scholar]
- Genest P. Propos sur un chromosome Y à satellites. Ann Genet. 1978 Dec;21(4):237–238. [PubMed] [Google Scholar]
- Genest P. Transmission hèrèditaire, depuis 300 ans, d'un chromosome Y à satellites dans une lignèe familiale. Ann Genet. 1973 Mar;16(1):35–38. [PubMed] [Google Scholar]
- German J., Simpson J. L., McLemore G. A., Jr Abnormalities of human sex chromosomes. I. A ring Y without mosaiciam. Ann Genet. 1973 Dec;16(4):225–231. [PubMed] [Google Scholar]
- Gilgenkrantz S., Pierson M., Mauuary G. Chromosome 13q+ par translocation probable d'un Y surnuméraire. Ann Genet. 1973 Sep;16(3):167–172. [PubMed] [Google Scholar]
- Giraud F., Mattei J. F., Lucas C., Mattei M. G. Four new cases of Dicentric Y chromosomes. Hum Genet. 1977 May 10;36(3):249–260. doi: 10.1007/BF00446273. [DOI] [PubMed] [Google Scholar]
- Greenblatt R. B., Byrd J. R., McDonough P. G., Mahesh V. B. The spectrum of gonadal dysgenesis. A clinical, cytogenetic, and pathologic study. Am J Obstet Gynecol. 1967 May 15;98(2):151–172. doi: 10.1016/s0002-9378(16)34583-5. [DOI] [PubMed] [Google Scholar]
- HART Z. H., COHEN M. M., DIETZE M. R., REISMAN L. E. A SEX CHROMATIN NEGATIVE INDIVIDUAL WITH CHROMOSOMES (XO) PLUS A PERSISTENT CENTRIC FRAGMENT. J Pediatr. 1965 Jan;66:120–123. doi: 10.1016/s0022-3476(65)80347-x. [DOI] [PubMed] [Google Scholar]
- Hahnemann N., Eiberg H. Antenatal genetic diagnosis in a kindred with a 15p plus chromosome. Clin Genet. 1973 Jun;4(6):464–473. [PubMed] [Google Scholar]
- Hahnenmann N., Miller R. C., Greene A. E., Coriell L. L. A (Y;15) translocation, 46 chromosomes. Repository identification No. GM-118. Cytogenet Cell Genet. 1975;15(6):408–409. doi: 10.1159/000130543. [DOI] [PubMed] [Google Scholar]
- Hamerton J. L., Canning N., Ray M., Smith S. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet. 1975 Oct;8(4):223–243. doi: 10.1111/j.1399-0004.1975.tb01498.x. [DOI] [PubMed] [Google Scholar]
- Hasen J., Ross H., Boyar R. M. H-Y antigen: localization of the H-Y gene. Horm Res. 1978;9(2):102–106. doi: 10.1159/000178901. [DOI] [PubMed] [Google Scholar]
- Hayata I., Oshimura M., Sandberg A. A. N-band polymorphism of human acrocentric chromosomes and its relevance to satellite association. Hum Genet. 1977 Apr 7;36(1):55–61. doi: 10.1007/BF00390436. [DOI] [PubMed] [Google Scholar]
- Hermier M., Philippe N., François R. Sujet masculin pubère et sans ambiguite génitale, 45 X/46 X dic (Yq). Etude critique des particularités du phénotype. Arch Fr Pediatr. 1979 Feb;36(2):162–172. [PubMed] [Google Scholar]
- Higurashi M., Iijima K., Ikeda U. Chromosome survey of newborn infants in Tokyo: follow-up study for XYY. Birth Defects Orig Artic Ser. 1979;15(1):161–174. [PubMed] [Google Scholar]
- Hillman L. S., Sekhon G. S., Kaufman R. L., Ho C. K. Y-21 translocation with gonadal and renal dysgenesis and cardiac rupture. Am J Dis Child. 1974 Oct;128(4):560–563. doi: 10.1001/archpedi.1974.02110290130023. [DOI] [PubMed] [Google Scholar]
- Howard-Peebles P. N., Stoddard G. R. A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9. Hum Genet. 1976 Oct 28;34(2):223–225. doi: 10.1007/BF00278893. [DOI] [PubMed] [Google Scholar]
- Howell W. M., Howard-Peebles P. N., Block B. M., Stoddard G. R. Silver stain reveals nucleolus organizer regions on a satellited Yq chromosome. Hum Genet. 1978 Jun 27;42(3):245–250. doi: 10.1007/BF00291303. [DOI] [PubMed] [Google Scholar]
- Hreidarsson A. B., Nielsen J., Berggreen S. Presumptive Y-15 translocation and mental retardation in a family with a case of Klinefelter's syndrome. J Ment Defic Res. 1973 Sep-Dec;17(3):163–170. doi: 10.1111/j.1365-2788.1973.tb01200.x. [DOI] [PubMed] [Google Scholar]
- Hsu L. Y., Kim H. J., Paciuc S., Steinfeld L., HirshhorHirschhorn K. Non-fluorescent and non-heterochromatic Y chromosome in 45, X 46,XY mosaicism. Ann Genet. 1974 Mar;17(1):5–9. [PubMed] [Google Scholar]
- Isurugi K., Aso Y., Ishida H., Suzuki T., Kakizoe T., Motegi T., Nishi T., Aoki H. Prepubertal XY gonadal dysgenesis. Pediatrics. 1977 Apr;59(4):569–573. [PubMed] [Google Scholar]
- JACOBS P. A., BRUNTON M., BROWN W. M. CYTOGENETIC STUDIES IN LEUCOCYTES ON THE GENERAL POPULATION: SUBJECTS OF AGES 65 YEARS AND MORE. Ann Hum Genet. 1964 Jun;27:353–365. doi: 10.1111/j.1469-1809.1963.tb01532.x. [DOI] [PubMed] [Google Scholar]
- JACOBS P. A., STRONG J. A. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959 Jan 31;183(4657):302–303. doi: 10.1038/183302a0. [DOI] [PubMed] [Google Scholar]
- JONES H. W., Jr, ZOURLAS P. A. CLINICAL, HISTOLOGIC, AND CYTOGENETIC FINDINGS IN MALE HERMAPHRODITISM. I. MALE HERMAPHRODITISM WITH AMBIGUOUS OR PREDOMINANTLY MASCULINE EXTERNAL GENITALIA. Obstet Gynecol. 1965 May;25:597–606. [PubMed] [Google Scholar]
- Jacobs P. A., Ross A. Structural abnormalities of the Y chromosome in man. Nature. 1966 Apr 23;210(5034):352–354. doi: 10.1038/210352a0. [DOI] [PubMed] [Google Scholar]
- Jacobs P. A. Structural abnormalities of the sex chromosomes. Br Med Bull. 1969 Jan;25(1):94–98. doi: 10.1093/oxfordjournals.bmb.a070676. [DOI] [PubMed] [Google Scholar]
- Jalal S. M., Pfeiffer R. A., Pathak S., Hsu T. C. Subdivision of the human Y chromosome. Humangenetik. 1974;24(1):59–65. doi: 10.1007/BF00281109. [DOI] [PubMed] [Google Scholar]
- Jalbert P., Convert A., Mouriquand C., Malka J. A propos d'une observation d'Y dicentrique chez un pseudohermaphrodite masculin avec mosaïque gonosomale complexe. Ann Genet. 1969 Dec;12(4):253–258. [PubMed] [Google Scholar]
- Johnston A. W., Speed R. M., Klopper A., Robinson J. A. A patient with a dicentric Y chromosome. Clin Genet. 1974;6(4):326–331. doi: 10.1111/j.1399-0004.1974.tb02094.x. [DOI] [PubMed] [Google Scholar]
- Jones H. W., Jr, Rary J. M., Rock J. A., Cummings D. The role of the H-Y antigen in human sexual development. Johns Hopkins Med J. 1979 Aug;145(2):33–43. [PubMed] [Google Scholar]
- KJESSLER B. KARYOTYPES OF 130 CHILDLESS MEN. Lancet. 1965 Sep 4;2(7410):493–494. doi: 10.1016/s0140-6736(65)91450-9. [DOI] [PubMed] [Google Scholar]
- KLEVIT H. D., MELLMAN W. J., EBERLEIN W. R. Triple mosaicism with an isochromosome derived from a partially deleted Y in a male pseudohermaphrodite. Pediatrics. 1963 Jul;32:56–62. [PubMed] [Google Scholar]
- Kakati S., Sinha A. K. Induction of distinctive chromosomal bands in selected human subjects with D, G, and Y chromosome anomalies. Hum Hered. 1973 Apr;23(4):313–330. doi: 10.1159/000152592. [DOI] [PubMed] [Google Scholar]
- Kaluzewski B., Jokinen A., Hortling H., de la Chapelle A. A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. presentation of three cases. Ann Genet. 1978 Mar;21(1):5–11. [PubMed] [Google Scholar]
- Kaluzewski B., Podkul D., Zaborowska I., Moruzgala T., Jakubowski L. The 48, XXXX/49,XXXXY/49,XXXX,i(Yq) mosaicism in a 3-year-old boy from a twin pregnancy. Hum Genet. 1977 Jul 26;37(3):355–359. doi: 10.1007/BF00393620. [DOI] [PubMed] [Google Scholar]
- Kardon N. B., Chernay P. R., Hsu L. Y., Martin J. L., Hirschhorn K. Pitfalls in prenatal diagnosis resulting from chromosomal mosaicism. J Pediatr. 1972 Feb;80(2):297–299. doi: 10.1016/s0022-3476(72)80597-3. [DOI] [PubMed] [Google Scholar]
- Kardon N. B., Chernay P. R., Hsu L. Y., Martin J. L., Hirschhorn K. Problems in prenatal diagnosis resulting from chromosomal mosaicism. Clin Genet. 1972;3(2):83–89. doi: 10.1111/j.1399-0004.1972.tb01730.x. [DOI] [PubMed] [Google Scholar]
- Kessel E., Pfeiffer R. A., Welling P. Translocation 22/Y familiale et trisomie partielle autosomique chez une jeune fille. J Genet Hum. 1979 Mar;27(1):45–51. [PubMed] [Google Scholar]
- Khodr G. S., Cadena G. D., Ong T. C., Siler-Khodr T. M. Y-autosome translocation, gonadal dysgenesis, and gonadoblastoma. Am J Dis Child. 1979 Mar;133(3):277–282. doi: 10.1001/archpedi.1979.02130030053009. [DOI] [PubMed] [Google Scholar]
- Khudr G., Benirschke K., Brooks D., Rakoff J. S. XO-XY mosaicism and nonfluorescent Y chromosome. Obstet Gynecol. 1973 Sep;42(3):421–428. [PubMed] [Google Scholar]
- Khudr G., Benirschke K., Judd H. L., Strauss J. Y to X translocation in a woman with reproductive failure. A new rearrangement. JAMA. 1973 Oct 29;226(5):544–549. [PubMed] [Google Scholar]
- Khudr G., Benirschke K. X-Y translocation. Am J Obstet Gynecol. 1973 Jun 15;116(4):584–585. doi: 10.1016/0002-9378(73)90923-x. [DOI] [PubMed] [Google Scholar]
- Khudr G., Benirschke K. Y ring chromosome associated with gonadoblastoma in situ. Obstet Gynecol. 1973 Jun;41(6):897–901. [PubMed] [Google Scholar]
- King C. R., Cook D. M. Bilateral gonadoblastoma in a phenotypic female with 45,X/46,X, dicentric iso Y [45,X/46,X,idic(Yq)] mosaicism. Birth Defects Orig Artic Ser. 1978;14(6C):109–122. [PubMed] [Google Scholar]
- Kinross J., Fraccaro M., Scappaticci S., Tiepolo L., Zuffardi O., Pawlowitzki I. H., Jones K. W. BSu restriction of DNA from cases exhibiting sex-chromosome abnormalities. Cytogenet Cell Genet. 1978;20(1-6):59–69. doi: 10.1159/000130840. [DOI] [PubMed] [Google Scholar]
- Klinger H. P., Glasser M., Kava H. W. Contraceptives and the conceptus. I. Chromosome abnormalities of the fetus and neonate related to maternal contraceptive history. Obstet Gynecol. 1976 Jul;48(1):40–48. [PubMed] [Google Scholar]
- Kohn G., Yarkoni S., Cohen M. M. Two conceptions in a 45,X woman. Am J Med Genet. 1980;5(4):339–343. doi: 10.1002/ajmg.1320050404. [DOI] [PubMed] [Google Scholar]
- Koo G. C., Wachtel S. S., Krupen-Brown K., Mittl L. R., Breg W. R., Genel M., Rosenthal I. M., Borgaonkar D. S., Miller A. D., Tantravahi R. Mapping the locus of the H-Y gene on the human Y chromosome. Science. 1977 Dec 2;198(4320):940–942. doi: 10.1126/science.929180. [DOI] [PubMed] [Google Scholar]
- Krmpotic E., Szego K., Modestas R., Molabola G. B. Localization of male determining factor on short arm of Y chromosome. Case report of a baby with 46, x, t (Yp+;14q-). Clin Genet. 1972;3(5):381–387. doi: 10.1111/j.1399-0004.1972.tb01471.x. [DOI] [PubMed] [Google Scholar]
- Kunkel L. M., Smith K. D., Boyer S. H., Borgaonkar D. S., Wachtel S. S., Miller O. J., Breg W. R., Jones H. W., Jr, Rary J. M. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245–1249. doi: 10.1073/pnas.74.3.1245. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Köbberling J., Hinrichsen K., Ristedt T. Abweichungen im Geschlechtschromosomenbefund einer seltenen Sonderform der Intersexualität mit fehlenden inneren Genitalorganen. Cytogenetics. 1965;4(6):349–364. [PubMed] [Google Scholar]
- LAMY M., de GROUCHY, FREZAL J., JOSSO N., FEINTUCH G. [Klinefelter's syndrome and hypospadias. Presence of 2 X chromosomes. Rupture of Y chromosome and translocation of its fragments]. C R Hebd Seances Acad Sci. 1962 Jul 16;255:581–583. [PubMed] [Google Scholar]
- LO M. T., KOBERNICK S. D. X"Y"-XO MOSAICISM IN A PHENOTYPIC INTERSEX; REPORT OF A CASE. Am J Clin Pathol. 1965 Mar;43:251–255. doi: 10.1093/ajcp/43.3.251. [DOI] [PubMed] [Google Scholar]
- Langmaid H., Laurence K. M. Deletion of the long arms of the Y chromosome with normal male development and intelligence. J Med Genet. 1974 Jun;11(2):208–211. doi: 10.1136/jmg.11.2.208. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Latt S. A., Davidson R. L., Lin M. S., Gerald P. S. Lateral asymmetry in the fluorescence of human Y chromosomes stained with 33 258 Hoechst. Exp Cell Res. 1974 Aug;87(2):425–429. doi: 10.1016/0014-4827(74)90510-2. [DOI] [PubMed] [Google Scholar]
- Laurent C., Dutrillaux B. Translocation t(Y;14) chez un homme azoospermique. Ann Genet. 1976 Sep;19(3):207–209. [PubMed] [Google Scholar]
- Laurent C., Papathanassiou Z., Haour P., Cognat M. Etude mitotique et meiotique de 70 cas de stérilité masculine. Mitotische und meiotische untersuchungen an 70 fállen von sterilität des mannes. Andrologie. 1973;5(3):193–200. [PubMed] [Google Scholar]
- Leisti J. Structural variation in human nitotic chromosomes. Ann Acad Sci Fenn Biol. 1971;179:1–69. [PubMed] [Google Scholar]
- Lenz W., Pfeiffer R. A. Die Genetik der Geschlechtsdifferenzierung beim Menschen. Munch Med Wochenschr. 1966 Sep 2;108(35):1726–1731. [PubMed] [Google Scholar]
- Lo Curto F., Pucci E., Scappaticci S., Scotta S., Severi F., Burgio G. R., Fraccaro M. XO and male phenotype. Am J Dis Child. 1974 Jul;128(1):90–91. doi: 10.1001/archpedi.1974.02110260092018. [DOI] [PubMed] [Google Scholar]
- Lo Curto F., Scappaticci S., Zuffardi O., Chierichetti G., Fraccaro M. Non-fluorescent Y chromosome in a 45,X-46,XY mosaic. Ann Genet. 1972 Jun;15(2):107–110. [PubMed] [Google Scholar]
- Lopez Pajares I., Delicado A., Cobos P. V., Sanchez Corral F., Cuadrado C. An azoospermic male with a Y/autosome translocation. Hum Genet. 1979 Jan 25;46(2):155–158. doi: 10.1007/BF00291916. [DOI] [PubMed] [Google Scholar]
- Lucas M., Dewhurst C. J. Y chromosome fluorescence in phenotypic females. J Obstet Gynaecol Br Commonw. 1972 Jun;79(6):498–503. doi: 10.1111/j.1471-0528.1972.tb14191.x. [DOI] [PubMed] [Google Scholar]
- Lundsteen C., Philip J. Y-22 translocation in a YY male. Cytogenet Cell Genet. 1973;12(1):53–59. doi: 10.1159/000130438. [DOI] [PubMed] [Google Scholar]
- László J., Gaál M., Bósze P. Nonmosaic 46,X,r(Y) karyotype with female phenotype. Hum Genet. 1977 Oct 14;38(3):351–356. doi: 10.1007/BF00402164. [DOI] [PubMed] [Google Scholar]
- Lønberg N. C., Erlendsson J., Nielsen J., Saldaña-Garcia P., Philip J. Isochromosome Yq in a woman with atypical Turner's syndrome. Hum Genet. 1977 Aug 31;38(1):49–55. doi: 10.1007/BF00295807. [DOI] [PubMed] [Google Scholar]
- MELLMAN W. J., KLEVIT H. D., YAKOVAC W. C., MOORHEAD P. S., SAKSELA E. XO-XY CHROMOSOME MOSAICISM. J Clin Endocrinol Metab. 1963 Nov;23:1090–1095. doi: 10.1210/jcem-23-11-1090. [DOI] [PubMed] [Google Scholar]
- MULDAL S., OCKEY C. H. Deletion of Y chromosome in a family with muscular dystrophy and hypospadias. Br Med J. 1962 Feb 3;1(5274):291–294. doi: 10.1136/bmj.1.5274.291. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Macintyre M. N., Rustad R. C., Turk K. B. Prenatal evaluation in a case of familial Y chromosome long arm deletion (Yq-). J Med Genet. 1974 Dec;11(4):367–370. doi: 10.1136/jmg.11.4.367. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Madan K. Chromosome measurements on an XXp+ male. Hum Genet. 1976 May 19;32(2):141–142. doi: 10.1007/BF00291496. [DOI] [PubMed] [Google Scholar]
- Madan K., Gooren L., Schoemaker J. Three cases of sex chromosome mosaicism with a nonfluorescent Y. Hum Genet. 1979 Feb 15;46(3):295–304. doi: 10.1007/BF00273313. [DOI] [PubMed] [Google Scholar]
- Madan K., Walker S. Letter: Possible evidence for Xp plus in and XX Male. Lancet. 1974 Jun 15;1(7868):1223–1223. doi: 10.1016/s0140-6736(74)91028-9. [DOI] [PubMed] [Google Scholar]
- Maeda T., Ohno M., Ishibashi A., Samejima M., Sasaki K. Ring Y chromosome: 45,X/46,Xr(Y) chromosome mosaicism in a phenotypically normal male with azoospermia. Hum Genet. 1976 Sep 10;34(1):99–102. doi: 10.1007/BF00284445. [DOI] [PubMed] [Google Scholar]
- Magnelli N. C., Vianna-Morgante A. M., Frota-Pessoa O., Taboada-Lopez M. G. Turner's syndrome and 46,X,i(Yq) karyotype. J Med Genet. 1974 Dec;11(4):403–406. doi: 10.1136/jmg.11.4.403. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Mailhes J. B., Pittaway D. E., Rary J., Chen H., Grafton W. D. H-Y antigen-positive male pseudohermaphroditism with 45,X/46,XYq-mosaicism. Hum Genet. 1979;53(1):57–63. doi: 10.1007/BF00289452. [DOI] [PubMed] [Google Scholar]
- Manuel M., Katayama P. K., Jones H. W., Jr The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol. 1976 Feb 1;124(3):293–300. doi: 10.1016/0002-9378(76)90160-5. [DOI] [PubMed] [Google Scholar]
- Mattei J. F., Mattei M. G., Coignet J., Giraud F. Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome. J Med Genet. 1978 Apr;15(2):154–157. doi: 10.1136/jmg.15.2.154. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Mattei J. F., Mattei M. G., Lucas C., Giraud F. Les anomalies de structure du chromosome Y -- a propos de 10 observations. J Genet Hum. 1979 Mar;27(1):53–66. [PubMed] [Google Scholar]
- McDonough P. G., Greenblatt R. B., Byrd J. R., Hastings E. V. Gonadoblastoma (gonocytoma 3). Report of a case. Obstet Gynecol. 1967 Jan;29(1):54–58. [PubMed] [Google Scholar]
- McIlree M. E., Price W. H., Brown W. M., Tulloch W. S., Newsam J. E., Maclean N. Chromosome studies on testicular cells from 50 subfertile men. Lancet. 1966 Jul 9;2(7454):69–71. doi: 10.1016/s0140-6736(66)91803-4. [DOI] [PubMed] [Google Scholar]
- Meisner L. F., Inhorn S. L. Normal male development with Y chromosome long arm deletion (Yq-). J Med Genet. 1972 Sep;9(3):373–377. doi: 10.1136/jmg.9.3.373. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Melis G. B., Mameli M., Cardia S., Genazzani A. R., Milia A., Nasi A., Paoletti A. M., Puddu R., Fioretti P. XO/XY mosaicism with non fluorescent Y chromosome: clinical, cytogenetic and endocrinological studies on a female subject. Acta Eur Fertil. 1977 Dec;8(4):283–296. [PubMed] [Google Scholar]
- Miller R. C., Goodman R. M., Miller F. R., Nusbaum L. A new variant of Klinefelter's syndrome with a presumptive deleted Y chromosome. Ann Intern Med. 1967 Oct;67(4):825–831. doi: 10.7326/0003-4819-67-4-825. [DOI] [PubMed] [Google Scholar]
- Moreau N., Rochet Y., Peyramond C., Raymond D. Mosaique 45,X/ 46,XX/ 46,XY avec phénotype féminin. Bull Assoc Anat (Nancy) 1976 Dec;60(171):757–767. [PubMed] [Google Scholar]
- Moreira-Filho C. A., Otto P. G., Frota-Pessoa O. H-Y gene expression in apparent absence of the long arm of the Y chromosome. Am J Med Genet. 1979;4(2):135–139. doi: 10.1002/ajmg.1320040205. [DOI] [PubMed] [Google Scholar]
- Morillo-Cucci G., German J. Abnormal Y chromosomes and monosomy 45,X: a concept derived from the study of three patients. Birth Defects Orig Artic Ser. 1971 May;7(6):210–214. [PubMed] [Google Scholar]
- Málková J., Michalová K., Chrz R., Kobilková J., Motlík K., Stárka L. Dicentric Yp chromosome in a patient with the gonadal dysgenesis and gonadoblastoma. Humangenetik. 1975;27(3):251–253. doi: 10.1007/BF00278354. [DOI] [PubMed] [Google Scholar]
- Márquez-Monter H., Armendares S., Buentello L., Villegas J. Histopathologic study with cytogenetic correlation in 20 cases of gonadal dysgenesis. Am J Clin Pathol. 1972 Apr;57(4):449–456. doi: 10.1093/ajcp/57.4.449. [DOI] [PubMed] [Google Scholar]
- Müller U., Zenzes M. T., Bauknecht T., Wolf U., Siebers J. W., Engel W. Appearance of hCG-receptor after conversion of newborn ovarian cells into testicular structures by H-Y antigen in vitro. Hum Genet. 1978 Dec 18;45(2):203–207. doi: 10.1007/BF00286964. [DOI] [PubMed] [Google Scholar]
- Nagai Y., Ohno S. Testis-determining H-Y antigen in XO males of the mole-vole (Ellobius lutescens). Cell. 1977 Apr;10(4):729–732. doi: 10.1016/0092-8674(77)90107-6. [DOI] [PubMed] [Google Scholar]
- Nakagome Y., Smith H. D., Soukup S. W. A presumptive Y-autosome translocation in a boy with congenital malformations. Am J Dis Child. 1968 Aug;116(2):205–210. doi: 10.1001/archpedi.1968.02100020207016. [DOI] [PubMed] [Google Scholar]
- Narahara K., Yabuuchi H., Kimura S., Kimoto H. A case of a reciprocal translocation between the Y and no. 1 chromosomes. Jinrui Idengaku Zasshi. 1978 Sep;23(3):225–231. doi: 10.1007/BF01872472. [DOI] [PubMed] [Google Scholar]
- Neu R. L., Barlow M. J., Jr, Gardner L. I. Communications and commentaries: A 46,XYq- male with aspermia. Fertil Steril. 1973 Oct;24(10):811–813. doi: 10.1016/s0015-0282(16)39979-4. [DOI] [PubMed] [Google Scholar]
- Nielsen J., Friedrich U., Christensen A. L., Godt H. H., Strömgren L. S. A phenotypic male with karyotype 45,X:45,X,ace+(?Yg--). Humangenetik. 1972;15(4):319–326. doi: 10.1007/BF00281731. [DOI] [PubMed] [Google Scholar]
- Nielsen J., Friedrich U., Hreidarsson A. B., Noel B., Quack B., Mottet J. Letter: Brilliantly fluorescing enlarged short arms D or G. Lancet. 1974 May 25;1(7865):1049–1050. doi: 10.1016/s0140-6736(74)90443-7. [DOI] [PubMed] [Google Scholar]
- Nielsen J., Friedrich U. Length of the Y chromosome in criminal males. Clin Genet. 1972;3(4):281–285. doi: 10.1111/j.1399-0004.1972.tb04277.x. [DOI] [PubMed] [Google Scholar]
- Nielsen J., Friedrich U., Tsuboi T., Dalby A. Father and son with karyotype 47,XY,?Yq-. Humangenetik. 1971;11(3):247–252. doi: 10.1007/BF00274745. [DOI] [PubMed] [Google Scholar]
- Nielsen J., Rasmussen K., Sillesen I. A boy with 47,X,del(X)(p11leads to q13:q21leads to q24),del(Y)(q11):reexamination of a case previously described as 47,XX,?Yq-. Hum Genet. 1976 Feb 29;31(2):227–230. doi: 10.1007/BF00296150. [DOI] [PubMed] [Google Scholar]
- Nielsen J., Rasmussen K. Y/autosomal translocations. Clin Genet. 1976 Jun;9(6):609–617. doi: 10.1111/j.1399-0004.1976.tb01621.x. [DOI] [PubMed] [Google Scholar]
- Noel B., Emerit I., Luciani J. M., Quack B. A familial Y-autosome translocation in man. Clin Genet. 1971;2(1):1–6. doi: 10.1111/j.1399-0004.1971.tb00248.x. [DOI] [PubMed] [Google Scholar]
- Ohno S., Nagai Y., Ciccarese S. Testicular cells lysostripped of H-Y antigen organize ovarian follicle-like aggregates. Cytogenet Cell Genet. 1978;20(1-6):351–364. doi: 10.1159/000130863. [DOI] [PubMed] [Google Scholar]
- Ohno S. The Y-linked H-Y antigen locus and the X-linked Tfm locus as major regulatory genes of the mammalian sex determining mechanism. J Steroid Biochem. 1977 May;8(5):585–592. doi: 10.1016/0022-4731(77)90266-7. [DOI] [PubMed] [Google Scholar]
- Padre-Mendoza T., Forman E. N., Farnes P., Barker B. E., Smith P. S. Short Y chromosome and Ph1 chromosome in acute monomyelocytic leukaemia. Lancet. 1978 Mar 25;1(8065):667–667. doi: 10.1016/s0140-6736(78)91178-9. [DOI] [PubMed] [Google Scholar]
- Park I. J., Heller R. H., Jones H. W., Jr, Woodruff J. D. Apparent pseudopuberty in a phenotypic female with a gonadal tumor and an autosome-Y chromosome translocation. Am J Obstet Gynecol. 1974 Jul 1;119(5):661–668. doi: 10.1016/0002-9378(74)90129-x. [DOI] [PubMed] [Google Scholar]
- Pescia G., Jotterand M. Possible evidence of X-Y interchange in an XX male. Lancet. 1977 Mar 5;1(8010):550–550. doi: 10.1016/s0140-6736(77)91416-7. [DOI] [PubMed] [Google Scholar]
- Pfeiffer R. A., Bier L., Majewski F., Rager K. De novo translocation t(Yq-; 15p+) in a malformed boy. Humangenetik. 1973 Sep 20;19(3):349–352. doi: 10.1007/BF00278418. [DOI] [PubMed] [Google Scholar]
- Polani P. E., Alberman E., Alexander B. J., Benson P. F., Berry A. C., Blunt S., Daker M. G., Fensom A. H., Garrett D. M., McGuire V. M. Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems. J Med Genet. 1979 Jun;16(3):166–175. doi: 10.1136/jmg.16.3.166. [DOI] [PMC free article] [PubMed] [Google Scholar]
- RUSSELL L. B., CHU E. H. An XXY male in the mouse. Proc Natl Acad Sci U S A. 1961 Apr 15;47:571–575. doi: 10.1073/pnas.47.4.571. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Rary J. M., Cummings D. K., Jones H. W., Jr, Rock J. A. Assignment of the H-Y antigen gene to the short arm of chromosome Y. J Hered. 1979 Jan-Feb;70(1):78–80. doi: 10.1093/oxfordjournals.jhered.a109197. [DOI] [PubMed] [Google Scholar]
- Rary J. M., Cummings D. K., Jones H. W., Jr, Rock J. A., Julian C. G. Cytogenetic and clinical notes on a girl with a 46,X,i(Yq) karyotype, H-Y antigen-negative, and a gonadoblastoma. Birth Defects Orig Artic Ser. 1978;14(6C):97–107. [PubMed] [Google Scholar]
- Rary J. M., Middleton A., Mulivor R. A., Greene A. E., Coriell L. L. A (Y;17) translocation in a fibroblast culture from a female with 46 chromosomes. Repository identification No. GM-2598. Cytogenet Cell Genet. 1979;24(3):198–198. doi: 10.1159/000131378. [DOI] [PubMed] [Google Scholar]
- Reitalu J. A familial Y-22 translocation in man. Hereditas. 1973;74(1):155–160. doi: 10.1111/j.1601-5223.1973.tb01117.x. [DOI] [PubMed] [Google Scholar]
- Reitalu J., Bergman S., Ekwall B. Structural exchange between the X and Y chromosomes as the probable cause of hypogonadism. Hereditas. 1970;65(1):97–106. doi: 10.1111/j.1601-5223.1970.tb02309.x. [DOI] [PubMed] [Google Scholar]
- Retief A. E., Van Niekerk W. A. Non-fluorescence of the Y-chromosome. Lancet. 1971 Jul 31;2(7718):270–271. doi: 10.1016/s0140-6736(71)92617-1. [DOI] [PubMed] [Google Scholar]
- Richards B. W., Stewart A. XO/XY mosaicism and non-fluorescing Y chromosome in a male. Hum Genet. 1978 Dec 29;45(3):331–338. doi: 10.1007/BF00278731. [DOI] [PubMed] [Google Scholar]
- Robinson J. A., Buckton K. E. Quinacrine fluorescence of variant and abnormal human Y chromosomes. Chromosoma. 1971;35(3):342–352. doi: 10.1007/BF00326283. [DOI] [PubMed] [Google Scholar]
- Rosenfeld R. G., Luzzatti L., Hintz R. L., Miller O. J., Koo G. C., Wachtel S. S. Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female. Am J Hum Genet. 1979 Jul;31(4):458–468. [PMC free article] [PubMed] [Google Scholar]
- Roubin M., de Grouchy J., Chauveau P., Rappaport R., Pellerin D. Chromosome Y dicentrique chez un pseudohermaphrodite masculin, [45,X/46,X, dic (Y)/47, XYY]. Ann Genet. 1977 Sep;20(3):185–189. [PubMed] [Google Scholar]
- Russell A., Moschos A., Butler L. J., Abraham J. M. Gonadal dysgenesis and its unilateral variant with testis in monozygous twins: related to discordance in sex chromosomal status. J Clin Endocrinol Metab. 1966 Dec;26(12):1282–1292. doi: 10.1210/jcem-26-12-1282. [DOI] [PubMed] [Google Scholar]
- Russell W. L., Russell L. B., Gower J. S. EXCEPTIONAL INHERITANCE OF A SEX-LINKED GENE IN THE MOUSE EXPLAINED ON THE BASIS THAT THE X/O SEX-CHROMOSOME CONSTITUTION IS FEMALE. Proc Natl Acad Sci U S A. 1959 Apr;45(4):554–560. doi: 10.1073/pnas.45.4.554. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ruthner U., Golob E. 45,X-45,X, ace(?Yp)plus-46,X,r(Y) in a phenotypically normal newborn male. Humangenetik. 1974 May 17;22(2):177–180. doi: 10.1007/BF00278458. [DOI] [PubMed] [Google Scholar]
- SOLOMON I. L., HAMM C. W., GREEN O. C. CHROMOSOME STUDIES ON TESTICULAR TISSUE CULTURES AND BLOOD LEUKOCYTES OF A MALE PREVIOUSLY REPORTED TO HAVE NO Y CHROMOSOME. N Engl J Med. 1964 Sep 17;271:586–592. doi: 10.1056/NEJM196409172711202. [DOI] [PubMed] [Google Scholar]
- Sa M. C., Botelho L. S. Un caso de amenorreia primária con provável translocaçao Y-D. Rev Iber Endocrinol. 1968 Jul-Aug;15(88):423–429. [PubMed] [Google Scholar]
- Scherini A., Sangermani R., Elli P. Delezione delle braccia lunghe del cromosoma Y e malformazioni multiple. Segnalazione di un caso. Minerva Pediatr. 1979 May 15;31(9):729–731. [PubMed] [Google Scholar]
- Schmid W., D'Apuzzo V. Centromere inactivation in a case of Turner variant with two dicentric iso-long arm Y chromosomes. Hum Genet. 1978 Mar 17;41(2):217–223. doi: 10.1007/BF00273104. [DOI] [PubMed] [Google Scholar]
- Schmid W. Satellites on the long Y chromosome arm: a familial Y-autosome translocation in man. Cytogenetics. 1969;8(6):415–426. doi: 10.1159/000130053. [DOI] [PubMed] [Google Scholar]
- Scully R. E. Gonadoblastoma. A review of 74 cases. Cancer. 1970 Jun;25(6):1340–1356. doi: 10.1002/1097-0142(197006)25:6<1340::aid-cncr2820250612>3.0.co;2-n. [DOI] [PubMed] [Google Scholar]
- Siebers J. W., Vogel W., Hepp H., Bolze H., Dittrich A. Structural aberrations of the Y chromosome and the corresponding phenotype. Report of a case with the karotype 45,X-46,X,i(Yp). Humangenetik. 1973;19(1):57–66. doi: 10.1007/BF00295235. [DOI] [PubMed] [Google Scholar]
- Simpson J. L. Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations. Birth Defects Orig Artic Ser. 1975;11(4):23–59. [PubMed] [Google Scholar]
- Singh R. P., Carr D. H. The anatomy and histology of XO human embryos and fetuses. Anat Rec. 1966 Jul;155(3):369–383. doi: 10.1002/ar.1091550309. [DOI] [PubMed] [Google Scholar]
- Soudek D., Laraya P. C and Q bands in long arm of Y chromosomes; are they identical? Hum Genet. 1976 Jun 29;32(3):339–341. doi: 10.1007/BF00295826. [DOI] [PubMed] [Google Scholar]
- Spowart G. Reassessment of presumed Y/22 and Y/15 translocations in man using a new technique. Cytogenet Cell Genet. 1979;23(1-2):90–94. doi: 10.1159/000131308. [DOI] [PubMed] [Google Scholar]
- Starkman M. N., Jaffe R. B. Chromosome aberrations in XO-XY mosaic individuals and their fathers. Am J Obstet Gynecol. 1967 Dec 15;99(8):1056–1066. doi: 10.1016/0002-9378(67)90343-2. [DOI] [PubMed] [Google Scholar]
- Steinbach P., Fabry H., Scholz W. Unstable ring Y chromosome in an aspermic male. Hum Genet. 1979 Apr 5;47(3):227–231. doi: 10.1007/BF00321013. [DOI] [PubMed] [Google Scholar]
- Stevenson A. C., Bedford J., Barberton G. M. A patient with 45,X-46,XXq--46,XXq-dic karyotype. J Med Genet. 1971 Dec;8(4):513–516. doi: 10.1136/jmg.8.4.513. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Subrt I., Blehová B. Robertsonian translocation between the chromosome Y and 15. Humangenetik. 1974;23(4):305–309. doi: 10.1007/BF00272514. [DOI] [PubMed] [Google Scholar]
- Surana R. B., Forbath P., Conen P. E. Minute Y chromosome. Ann Genet. 1971 Jun;14(2):145–148. [PubMed] [Google Scholar]
- TURPIN R., LEJEUNE J. [Human diseases caused by chromosomal aberrations]. Rev Fr Etud Clin Biol. 1960 Apr;5:341–347. [PubMed] [Google Scholar]
- Taillemite J. L., van den Akker J., Portnoi M. F., Le Porrier N., Marmor D., Bouillie J., Roux C. A case of ring Y chromosome. Hum Genet. 1978 May 16;42(1):89–91. doi: 10.1007/BF00291630. [DOI] [PubMed] [Google Scholar]
- Takayasu H., Isurugi K., Kinoshita K., Matsumoto Y., Tonomura A. Mixed gonadal dysgenesis with Turner phenotype and XO-XYq- mosaicism. Jinrui Idengaku Zasshi. 1970 Sep;15(2):103–113. [PubMed] [Google Scholar]
- Taylor M. C., Gardner H. A., Ezrin C. Isochromosome for the long arm of the Y in an infertile male. Hum Genet. 1978 Jan 19;40(2):227–230. doi: 10.1007/BF00272306. [DOI] [PubMed] [Google Scholar]
- Telfer M., Baker D., Rollin I. Probable long-arm deletion of Y chromosome in boy of short stature. Lancet. 1973 Mar 17;1(7803):608–608. doi: 10.1016/s0140-6736(73)90756-3. [DOI] [PubMed] [Google Scholar]
- Teter J., Boczkowski K. Occurrence of tumors in dysgenetic gonads. Cancer. 1967 Aug;20(8):1301–1310. doi: 10.1002/1097-0142(196708)20:8<1301::aid-cncr2820200814>3.0.co;2-4. [DOI] [PubMed] [Google Scholar]
- Tiepolo L., Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet. 1976 Oct 28;34(2):119–124. doi: 10.1007/BF00278879. [DOI] [PubMed] [Google Scholar]
- Tiepolo L., Zuffardi O., Rodewald A. Nullisomy for the distal portion of Xp in a male child with a X/Y translocation. Hum Genet. 1977 Dec 23;39(3):277–281. doi: 10.1007/BF00295420. [DOI] [PubMed] [Google Scholar]
- Tishler P. V., Lamborot-Manzur M., Atkins L. Polymorphism of the human Y chromosomes: fluorescence microscopic studies on the sites of morphologic variation. Clin Genet. 1972;3(2):116–122. doi: 10.1111/j.1399-0004.1972.tb01732.x. [DOI] [PubMed] [Google Scholar]
- Tsenghi C., Metaxotou-Stavridaki C., Strataki-Benetou M., Kalpini-Mavrou A., Matsaniotis N. Chromosome studies in couples with repeated spontaneous abortions. Obstet Gynecol. 1976 Apr;47(4):463–468. [PubMed] [Google Scholar]
- Tuncbilek E., Halicioglu C., Bobrow M., Ustay K. 45,XO/46,XYg dic mosaicism in a patient with ambiguous genitalia. Clin Genet. 1976 Mar;9(3):365–370. doi: 10.1111/j.1399-0004.1976.tb01588.x. [DOI] [PubMed] [Google Scholar]
- Turleau C., Chavin-Colin F., Seger J., Sorin M., Salet D., de Grouchy J. Chromosome Y avec satellite (Yqs) et organisateur nucléolaire survenu de novo. Ann Genet. 1978 Dec;21(4):239–242. [PubMed] [Google Scholar]
- Turleau C., Croquette M. F., Fourlinnie J. C., Desmons F., Grouchy J. Translocation 46,X, t(Y;7)(q122;q111) dans un cas de stérilité masculine. Ann Genet. 1976 Sep;19(3):210–212. [PubMed] [Google Scholar]
- Vague J., Mattei A., Stahl A., Luciani J. M., Devictor-Vuillet M., Carlon N., Rubin P. Hypotrophie testiculaire primitive, adénomatose sébacée confluente du visage, caryotype 46,XY-46,XYpi-47, XYpiYpi. Ann Endocrinol (Paris) 1970 Nov-Dec;31(6):1183–1192. [PubMed] [Google Scholar]
- Van den Berghe H., Fryns J. P., David G. Renovascular hypertension. Prospective diagnostic yield in a random access population. Humangenetik. 1973 Dec 20;20(4):375–376. [PubMed] [Google Scholar]
- Van den Berghe H., Steeno O., Verresen H., De Moor P. Hypogonadism associated with chromosomal break in autosome no. 2 and translocation presumably on the Y chromosome. J Clin Endocrinol Metab. 1965 Sep;25(9):1246–1250. doi: 10.1210/jcem-25-9-1246. [DOI] [PubMed] [Google Scholar]
- Verjaal M., Treffers P. E., Nagal Y., Leschot N. J. Prenatal diagnosis of a de novo Y/22 translocation. J Med Genet. 1978 Dec;15(6):475–479. doi: 10.1136/jmg.15.6.475. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Verma R. S., Dosik H., Jhaveri R. C., Warman J. Cytogenetic polymorphism or Y/15 translocation in a black male with ambiguous genitalia. J Genet Hum. 1978 Dec;26(4):405–409. [PubMed] [Google Scholar]
- Verma R. S., Dosik H., Scharf T., Lubs H. A. Length heteromorphisms of fluorescent (f) and non-fluorescent (nf) segments of human Y chromosome: classification, frequencies, and incidence in normal Caucasians. J Med Genet. 1978 Aug;15(4):277–281. doi: 10.1136/jmg.15.4.277. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Vianello M. G., Monteverde R., Bonioli E. Ceilognato-urano-stafiloschisi associata a t (Y;13. Minerva Pediatr. 1974 Mar 24;26(10):525–530. [PubMed] [Google Scholar]
- Vignetti P., Chessa L., Bruni L., Ferrante E., Dallapiccola B. Translocation Y/5 resulting in Cri du Chat syndrome. Clin Genet. 1977 Dec;12(6):319–322. doi: 10.1111/j.1399-0004.1977.tb00949.x. [DOI] [PubMed] [Google Scholar]
- Vignetti P., Ferrante E., Capotorti L. Disgenesia gonadica monolaterale con mosaicismo XO-XY. Minerva Pediatr. 1966 Oct 27;18(32):1903–1908. [PubMed] [Google Scholar]
- Wachtel S. S. H-Y antigen and the genetics of sex determination. Science. 1977 Nov 25;198(4319):797–799. doi: 10.1126/science.335511. [DOI] [PubMed] [Google Scholar]
- Wachtel S. S., Koo G. C., Breg W. R., Thaler H. T., Dillard G. M., Rosenthal I. M., Dosik H., Gerald P. S., Saenger P., New M. Serologic detection of a y-linked gene in xx males and xx true hermaphrodites. N Engl J Med. 1976 Sep 30;295(14):750–754. doi: 10.1056/NEJM197609302951403. [DOI] [PubMed] [Google Scholar]
- Wachtel S. S., Ono S., Koo G. C., Boyse E. A. Possible role for H--Y antigen in the primary determination of sex. Nature. 1975 Sep 18;257(5523):235–236. doi: 10.1038/257235a0. [DOI] [PubMed] [Google Scholar]
- Wagenbichler P., Golob E. Erfassung von Geschlechtschromosomenanomalien beim Neugeborenen. Wien Klin Wochenschr. 1975 Feb 21;87(4):126–130. [PubMed] [Google Scholar]
- Wahlström J., Akesson H. O., Eriksson B. A man with presumptive Y/Y translocation, observed in a forensic psychiatric department. Clin Genet. 1976 Aug;10(2NA-NA-760903-760909):82–88. doi: 10.1111/j.1399-0004.1976.tb00017.x. [DOI] [PubMed] [Google Scholar]
- Warburton D., Bluming A. A "Philadelphia-like" chromosome derived from the Y in a patient with refractory dysplastic anemia. Blood. 1973 Nov;42(5):799–804. [PubMed] [Google Scholar]
- Warter S., Ratel J. L. Translocation de l'Y sur un autosome et hypogonadisme. Hum Genet. 1976 Aug 30;33(3):335–336. doi: 10.1007/BF00286863. [DOI] [PubMed] [Google Scholar]
- Welshons W. J., Russell L. B. THE Y-CHROMOSOME AS THE BEARER OF MALE DETERMINING FACTORS IN THE MOUSE. Proc Natl Acad Sci U S A. 1959 Apr;45(4):560–566. doi: 10.1073/pnas.45.4.560. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Wilson M. G., Ebbin A. J., Shinno N. W., Towner J. W. Sex chromosome mosaicism of X/XY or X/XY/XYY. Birth Defects Orig Artic Ser. 1975;11(5):255–266. [PubMed] [Google Scholar]
- Wilson M. G., Stein R. B., Towner J. W. Ring Y chromosome without mosaicism. Birth Defects Orig Artic Ser. 1976;12(5):105–112. [PubMed] [Google Scholar]
- Winters A. J., Benirschke K., Whalley P., MacDonald P. C. Mosaicism and lack of fluorescence of Y chromosome. Obstet Gynecol. 1975 Sep;46(3):367–370. [PubMed] [Google Scholar]
- Wisniewski L., Higgins J. V. Mosaicism presumably related to a Y/6 translocation in a boy with multiple congenital abnormalities. J Med Genet. 1977 Oct;14(5):378–381. doi: 10.1136/jmg.14.5.378. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Yanagisawa S. Structural abnormalities of the Y chromosome and abnormal external genitals. Hum Genet. 1980 Feb;53(2):183–188. doi: 10.1007/BF00273493. [DOI] [PubMed] [Google Scholar]
- Ying K. L., Ives E. J. Mitotic behavior of a human dicentric Y chromosome. Cytogenetics. 1971;10(3):208–218. doi: 10.1159/000130140. [DOI] [PubMed] [Google Scholar]
- Ying K. L., Ives E. J., Stephenson O. D. Gonadal dysgenesis with 45,X/46,X,dic(Yp) mosaicism. Clin Genet. 1977 Jun;11(6):402–408. doi: 10.1111/j.1399-0004.1977.tb01335.x. [DOI] [PubMed] [Google Scholar]
- Yunis E., García-Conti F. L., de Caballero O. M., Giraldo A. Yq deletion, aspermia, and short stature. Hum Genet. 1977 Nov 2;39(1):117–122. doi: 10.1007/BF00273161. [DOI] [PubMed] [Google Scholar]
- Yunis E., Silva R., Ramirez E., Nossa M. A. X/XYq - mosaicism and mixed gonadal dysgenesis. J Med Genet. 1977 Aug;14(4):262–265. doi: 10.1136/jmg.14.4.262. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Zdansky R., Bühler E. M., Vest M., Bühler U. K., Stalder G. Familiäres Mosaik mit G-Ring. Humangenetik. 1969;7(4):275–286. doi: 10.1007/BF00283550. [DOI] [PubMed] [Google Scholar]
- Zenzes M. T., Wolf U., Engel W. Organization in vitro of ovarian cells into testicular structures. Hum Genet. 1978 Nov 16;44(3):333–338. doi: 10.1007/BF00394298. [DOI] [PubMed] [Google Scholar]
- Zenzes M. T., Wolf U., Günther E., Engel W. Studies on the function of H-Y antigen: dissociation and reorganization experiments on rat gonadal tissue. Cytogenet Cell Genet. 1978;20(1-6):365–372. doi: 10.1159/000130864. [DOI] [PubMed] [Google Scholar]
- Zeuthen E., Nielsen J. Length of the Y chromosome in a general male population. Acta Genet Med Gemellol (Roma) 1973;22:45–49. doi: 10.1017/s1120962300017583. [DOI] [PubMed] [Google Scholar]
- Zeuthen E., Nielsen J. Pericentric Y inversion in the general population. Humangenetik. 1973 Sep 20;19(3):265–270. doi: 10.1007/BF00278400. [DOI] [PubMed] [Google Scholar]
- de Almeida J. C., Barcinski M. A., do Céu Abreu M., Naya J., Kayath H. C., Cunha A. G., Schulz I., Mello R. S., Rita Santos R. 45,X-46,Xr(Y) in a case of asymmetrical testicular differentiation. Ann Genet. 1974 Mar;17(1):37–40. [PubMed] [Google Scholar]
- de Chieri P. R. Familial Y/22 translocation in a woman. J Genet Hum. 1978 Dec;26(4):297–301. [PubMed] [Google Scholar]
- de Grouchy J., Emerit I., Corone P. Mosaïque XO-XY-Xy et syndrome de Turner chez une fille de 18 ans. Ann Genet. 1966 Jun;9(2):86–90. [PubMed] [Google Scholar]
- de la Chapelle A. Analytic review: nature and origin of males with XX sex chromosomes. Am J Hum Genet. 1972 Jan;24(1):71–105. [PMC free article] [PubMed] [Google Scholar]
- de la Chapelle A., Simola K., Simola P., Knuutila S., Gahmberg N., Pajunen L., Lundqvist C., Sarna S., Murros J. Heteromorphic X chromosomes in 46,XX males? Hum Genet. 1979 Nov;52(2):157–167. doi: 10.1007/BF00271568. [DOI] [PubMed] [Google Scholar]
- van Zyl J. A., Menkveld R., van Kotze T. J., Retief A. E., van Niekerk W. A. Oligozoospermia: a seven-year survey of the incidence, chromosomal aberrations, treatment and pregnancy rate. Int J Fertil. 1975;20(3):129–132. [PubMed] [Google Scholar]
- van den Berghe H., Petit P., Fryns J. P. Y to X translocation in man. Hum Genet. 1977 Apr 15;36(2):129–141. doi: 10.1007/BF00273251. [DOI] [PubMed] [Google Scholar]
