Abstract
A case is presented of a monozygotic twin pair, discordant for phenotypic sex, in which the female member showed gonadal dysgenesis and chromosomal mosaicism. Review of the pertinent literature reveals that in monozygotic twin pairs, phenotypic and karyotypic concordance is the usual occurrence for Down's and Klinefelter's syndromes, whereas discordance often accompanies gonadal dysgenesis. Mosaicism is a frequent concomitant of gonadal dysgenesis in monozygotic twins. Our case strengthens the probability of a real association between mosaicism and monozygotic twinning in gonadal dysgenesis.
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- Barr M. L., Carr D. H., Plunkett E. R., Soltan H. C., Wiens R. G. Male pseudohermaphroditism and pure gonadal dysgenesis in sisters. Am J Obstet Gynecol. 1967 Dec 15;99(8):1047–1055. doi: 10.1016/0002-9378(67)90342-0. [DOI] [PubMed] [Google Scholar]
- Benirschke K., Kim C. K. Multiple pregnancy. 1. N Engl J Med. 1973 Jun 14;288(24):1276–1284. doi: 10.1056/NEJM197306142882406. [DOI] [PubMed] [Google Scholar]
- Benirschke K., Kim C. K. Multiple pregnancy. 2. N Engl J Med. 1973 Jun 21;288(25):1329–1336. doi: 10.1056/NEJM197306212882505. [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]
- DECOURT J., LEJEUNE J., MICHARD J. P., PETROVER M. SYNDROME DE TURNER HAPLO-X TYPIQUE CHEZ DEUX JUMELLES MONOZYGOTES. Ann Endocrinol (Paris) 1964 Jul-Aug;25:438–440. [PubMed] [Google Scholar]
- Edwards J. H., Dent T., Kahn J. Monozygotic twins of different sex. J Med Genet. 1966 Jun;3(2):117–123. doi: 10.1136/jmg.3.2.117. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Fathalla M. F., Rashad M. N., Kerr M. G. The relationship between ovarian tumours and intersex states with special reference to the disgerminoma and arrhenoblastoma. J Obstet Gynaecol Br Commonw. 1966 Oct;73(5):812–820. doi: 10.1111/j.1471-0528.1966.tb06090.x. [DOI] [PubMed] [Google Scholar]
- Ferrier P. E., Ferrier S. A., Kelley V. C. Sex chromosome mosaicism in disorders of sexual differentiation: incidence in various tissues. J Pediatr. 1970 May;76(5):739–744. doi: 10.1016/s0022-3476(70)80294-3. [DOI] [PubMed] [Google Scholar]
- Fialkow P. J. Autoimmunity and chromosomal aberrations. Am J Hum Genet. 1966 Jan;18(1):93–108. [PMC free article] [PubMed] [Google Scholar]
- Josso N., Nezelof C., Picon R., de Grouchy J., Dray F., Rappaport R. Gonadoblastoma in gonadal dysgenesis: a report of two cases with 46,XY-45,X mosaicism. J Pediatr. 1969 Mar;74(3):425–437. doi: 10.1016/s0022-3476(69)80201-5. [DOI] [PubMed] [Google Scholar]
- KLEMPMAN S. THE INVESTIGATION OF DEVELOPMENTAL SEXUAL ABNORMALITIES. S Afr Med J. 1964 Apr 11;38:234–236. [PubMed] [Google Scholar]
- LEMLI L., SMITH D. W. THE XO SYNDROME. A STUDY OF THE DIFFERENTIATED PHENOTYPE IN 25 PATIENTS. J Pediatr. 1963 Oct;63:577–588. doi: 10.1016/s0022-3476(63)80368-6. [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]
- MIKKELSEN M., FROLAND A., ELLEBJERG J. XO-XX MOSAICISM IN A PAIR OF PRESUMABLY MONOZYGOTIC TWINS WITH DIFFERENT PHENOTYPES. Cytogenetics. 1963;2:86–98. doi: 10.1159/000129770. [DOI] [PubMed] [Google Scholar]
- Muller P., Clavert J., Rihm G., Gillet J. Y. Mosaïque 45,XO-46,XX-47,XXX chez deux jumelles monozygotes: concordances et discordances cliniques et biologiques. Ann Endocrinol (Paris) 1970 Nov-Dec;31(6):1143–1152. [PubMed] [Google Scholar]
- NANCE W. E., UCHIDA I. TURNER'S SYNDROME, TWINNING, AND AN UNUSUAL VARIANT OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE. Am J Hum Genet. 1964 Sep;16:380–392. [PMC free article] [PubMed] [Google Scholar]
- Nicolis G. L., Hsu L. Y., Sabetghadam R., Kardon N. B., Chernay P. R., Mathur D. P., Rose H. G., Hirschhorn K., Gabrilove J. L. Klinefelter's syndrome in identical twins with the 46,XX chromosome constitution. Am J Med. 1972 Apr;52(4):482–491. doi: 10.1016/0002-9343(72)90039-3. [DOI] [PubMed] [Google Scholar]
- Potter A. M., Taitz L. S. Turner's syndrome in one of monozygotic twins with mosaicism. Acta Paediatr Scand. 1972 Jul;61(4):473–476. doi: 10.1111/j.1651-2227.1972.tb15867.x. [DOI] [PubMed] [Google Scholar]
- Rainer J. D., Abdullah S., Jarvik L. F. XYY karyotype in a pair of monozygotic twins: a 17-year life-history study. Br J Psychiatry. 1972 May;120(558):543–548. doi: 10.1192/bjp.120.558.543. [DOI] [PubMed] [Google Scholar]
- Riekhof P. L., Horton W. A., Harris D. J., Schimke R. N. Monozygotic twins with the Turner syndrome. Am J Obstet Gynecol. 1972 Jan 1;112(1):59–61. doi: 10.1016/0002-9378(72)90530-3. [DOI] [PubMed] [Google Scholar]
- Ross G. T., Tjio J. H., Lipsett M. B. Cytogenetic studies of presumptively monozygotic twin girls discordant for gonadal dysgenesis. J Clin Endocrinol Metab. 1969 Apr;29(4):440–445. doi: 10.1210/jcem-29-4-440. [DOI] [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]
- Shine I. B., Corney G. Turner's syndrome in monozygotic twins. J Med Genet. 1966 Jun;3(2):124–128. doi: 10.1136/jmg.3.2.124. [DOI] [PMC free article] [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]
- TURNER H. H., ZANARTU J. Ovarian dysgenesis in identical twins: discrepancy between nuclear chromatin pattern in somatic cells and in blood cells. J Clin Endocrinol Metab. 1962 Jun;22:660–665. doi: 10.1210/jcem-22-6-660. [DOI] [PubMed] [Google Scholar]
- TURPIN R., LEJEUNE J., LAFOURCADE J., CHIGOT P. L., SALMON C. [Presumption of monozygotism in spite of a sexual dimorphism: XY male subject and haploid X neuter subject]. C R Hebd Seances Acad Sci. 1961 May 8;252:2945–2946. [PubMed] [Google Scholar]
- Taylor H., Barter R. H., Jacobson C. B. Neoplasms of dysgenetic gonads. Am J Obstet Gynecol. 1966 Nov 15;96(6):816–823. doi: 10.1016/0002-9378(66)90677-6. [DOI] [PubMed] [Google Scholar]
- Van der Horst R., Frankel J., Grace J. Congenital hypertrophic pyloric stenosis in phenotypic female twins with X-XX mosaicism. Arch Dis Child. 1971 Aug;46(248):554–556. doi: 10.1136/adc.46.248.554. [DOI] [PMC free article] [PubMed] [Google Scholar]