Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1999 Apr;36(4):279–284.

A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome

D Robinson 1, P Dalton 1, P Jacobs 1, K Mosse 1, M Power 1, D Skuse 1, J Crolla 1
PMCID: PMC1734352  PMID: 10227393

Abstract

Fourteen patients with Turner syndrome and a structurally abnormal Y chromosome were analysed by PCR amplification and fluorescence in situ hybridisation for the presence of sequences specific to defined regions of the Y chromosome. Thirteen patients had a mosaic karyotype including a 45,X cell line and one case was non-mosaic in cultured lymphocytes. Ten patients had a pseudodicentric Yp chromosome, two an isodicentric Yq, one a pseudodicentric Yq, and one a derived Y chromosome. Two of the patients with a psu dic(Yp) chromosome had complex karyotypes with more than two cell lines, one of which exhibited five morphologically distinct mar(Y) chromosomes, presumably derived from a progenitor psu dic(Yp). Nine of the ten psu dic(Yp) chromosomes were positive for all Yp and Yq probes used except DYZ1 which maps to Yq12, suggesting a common breakpoint near the Yq euchromatin/heterochromatin boundary. In the three patients with a dicentric Yq chromosome two different breakpoints were observed; in two it was between PABY and the subtelomeric repeat sequence and in one it was between DYZ5 and AMGY in proximal Yp. Our results suggest that the great majority of structurally abnormal Y chromosomes found in Turner syndrome mosaics contain two copies of virtually all of the functional Y chromosome euchromatin.


Keywords: Turner syndrome; Y chromosomes; marker chromosomes; fluorescence in situ hybridisation

Full Text

The Full Text of this article is available as a PDF (150.3 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Beggs A. H., Koenig M., Boyce F. M., Kunkel L. M. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 1990 Nov;86(1):45–48. doi: 10.1007/BF00205170. [DOI] [PubMed] [Google Scholar]
  2. Bergendi E., Plöchl E., Vlasak I., Rittinger O., Muss W. A Turner-like phenotype in a girl with an isodicentric fluorescent Y chromosome mosaicism. Klin Padiatr. 1997 May-Jun;209(3):133–136. doi: 10.1055/s-2008-1043943. [DOI] [PubMed] [Google Scholar]
  3. Bernstein R., Steinhaus K. A., Cain M. J. Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y-chromosome marker, idic(Yp). Prenat Diagn. 1992 Sep;12(9):709–716. doi: 10.1002/pd.1970120904. [DOI] [PubMed] [Google Scholar]
  4. Bukvic N., Susca F., Gentile M., Tangari E., Ianniruberto A., Guanti G. An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite. Hum Genet. 1996 Apr;97(4):453–456. doi: 10.1007/BF02267065. [DOI] [PubMed] [Google Scholar]
  5. Chu C. E., Connor J. M., Donaldson M. D., Kelnar C. J., Smail P. J., Greene S. A. Detection of Y mosaicism in patients with Turner's syndrome. J Med Genet. 1995 Jul;32(7):578–580. doi: 10.1136/jmg.32.7.578. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Coto E., Toral J. F., Menéndez M. J., Hernando I., Plasencia A., Benavides A., López-Larrea C. PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome. Am J Med Genet. 1995 Jul 3;57(3):393–396. doi: 10.1002/ajmg.1320570305. [DOI] [PubMed] [Google Scholar]
  7. Diekmann L., Palm K., Pfeiffer R. A., Trautmann U., Scholz W., Schroers E., Vogt P., Köhler M. Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant. Hum Genet. 1992 Sep-Oct;90(1-2):181–183. doi: 10.1007/BF00210772. [DOI] [PubMed] [Google Scholar]
  8. Hassold T., Benham F., Leppert M. Cytogenetic and molecular analysis of sex-chromosome monosomy. Am J Hum Genet. 1988 Apr;42(4):534–541. [PMC free article] [PubMed] [Google Scholar]
  9. Hsu L. Y. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet. 1994 Nov 1;53(2):108–140. doi: 10.1002/ajmg.1320530204. [DOI] [PubMed] [Google Scholar]
  10. Jacobs P., Dalton P., James R., Mosse K., Power M., Robinson D., Skuse D. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet. 1997 Nov;61(Pt 6):471–483. doi: 10.1046/j.1469-1809.1997.6160471.x. [DOI] [PubMed] [Google Scholar]
  11. James R. S., Sharp A. J., Cockwell A. E., Coppin B., Jacobs P. A. Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction. J Med Genet. 1997 Dec;34(12):1030–1032. doi: 10.1136/jmg.34.12.1030. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Jones M. H., Khwaja O. S., Briggs H., Lambson B., Davey P. M., Chalmers J., Zhou C. Y., Walker E. M., Zhang Y., Todd C. A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin. Genomics. 1994 Nov 15;24(2):266–275. doi: 10.1006/geno.1994.1615. [DOI] [PubMed] [Google Scholar]
  13. Kirsch S., Keil R., Edelmann A., Henegariu O., Hirschmann P., LePaslier D., Vogt P. H. Molecular analysis of the genomic structure of the human Y chromosome in the euchromatic part of its long arm (Yq11). Cytogenet Cell Genet. 1996;75(2-3):197–206. doi: 10.1159/000134481. [DOI] [PubMed] [Google Scholar]
  14. Kocova M., Siegel S. F., Wenger S. L., Lee P. A., Trucco M. Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA. Lancet. 1993 Jul 17;342(8864):140–143. doi: 10.1016/0140-6736(93)91345-m. [DOI] [PubMed] [Google Scholar]
  15. Kuznetzova T., Baranov A., Schwed N., Ivaschenko T., Malet P., Giollant M., Savitsky G. A., Baranov V. Cytogenetic and molecular findings in patients with Turner's syndrome stigmata. J Med Genet. 1995 Dec;32(12):962–967. doi: 10.1136/jmg.32.12.962. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Liou J. D., Ma Y. Y., Gibson L. H., Su H., Charest N., Lau Y. F., Yang-Feng T. L. Cytogenetic and molecular studies of a familial paracentric inversion of Y chromosome present in a patient with ambiguous genitalia. Am J Med Genet. 1997 May 16;70(2):134–137. [PubMed] [Google Scholar]
  17. Lippe B. Turner syndrome. Endocrinol Metab Clin North Am. 1991 Mar;20(1):121–152. [PubMed] [Google Scholar]
  18. Lovell-Badge R., Hacker A. The molecular genetics of Sry and its role in mammalian sex determination. Philos Trans R Soc Lond B Biol Sci. 1995 Nov 29;350(1333):205–214. doi: 10.1098/rstb.1995.0153. [DOI] [PubMed] [Google Scholar]
  19. Medlej R., Lobaccaro J. M., Berta P., Belon C., Leheup B., Toublanc J. E., Weill J., Chevalier C., Dumas R., Sultan C. Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome. J Clin Endocrinol Metab. 1992 Nov;75(5):1289–1292. doi: 10.1210/jcem.75.5.1430090. [DOI] [PubMed] [Google Scholar]
  20. Miller S. A., Dykes D. D., Polesky H. F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 Feb 11;16(3):1215–1215. doi: 10.1093/nar/16.3.1215. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Müller U., Donlon T. A., Kunkel S. M., Lalande M., Latt S. A. Y-190, a DNA probe for the sensitive detection of Y-derived marker chromosomes and mosaicism. Hum Genet. 1987 Feb;75(2):109–113. doi: 10.1007/BF00591069. [DOI] [PubMed] [Google Scholar]
  22. Nakahori Y., Hamano K., Iwaya M., Nakagome Y. Sex identification by polymerase chain reaction using X-Y homologous primer. Am J Med Genet. 1991 Jun 15;39(4):472–473. doi: 10.1002/ajmg.1320390420. [DOI] [PubMed] [Google Scholar]
  23. Page D. C. Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development. 1987;101 (Suppl):151–155. doi: 10.1242/dev.101.Supplement.151. [DOI] [PubMed] [Google Scholar]
  24. Patsalis P. C., Hadjimarcou M. I., Velissariou V., Kitsiou-Tzeli S., Zera C., Syrrou M., Lyberatou E., Tsezou A., Galla A., Skordis N. Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome. Clin Genet. 1997 Mar;51(3):184–190. doi: 10.1111/j.1399-0004.1997.tb02450.x. [DOI] [PubMed] [Google Scholar]
  25. Pinkel D., Landegent J., Collins C., Fuscoe J., Segraves R., Lucas J., Gray J. Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci U S A. 1988 Dec;85(23):9138–9142. doi: 10.1073/pnas.85.23.9138. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Salo P., Käriäinen H., Petrovic V., Peltomäki P., Page D. C., de la Chapelle A. Molecular mapping of the putative gonadoblastoma locus on the Y chromosome. Genes Chromosomes Cancer. 1995 Nov;14(3):210–214. doi: 10.1002/gcc.2870140309. [DOI] [PubMed] [Google Scholar]
  27. Tsuchiya K., Reijo R., Page D. C., Disteche C. M. Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet. 1995 Dec;57(6):1400–1407. [PMC free article] [PubMed] [Google Scholar]
  28. Tuck-Muller C. M., Chen H., Martínez J. E., Shen C. C., Li S., Kusyk C., Batista D. A., Bhatnagar Y. M., Dowling E., Wertelecki W. Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature. Hum Genet. 1995 Jul;96(1):119–129. doi: 10.1007/BF00214200. [DOI] [PubMed] [Google Scholar]
  29. Tyler-Smith C., Oakey R. J., Larin Z., Fisher R. B., Crocker M., Affara N. A., Ferguson-Smith M. A., Muenke M., Zuffardi O., Jobling M. A. Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nat Genet. 1993 Dec;5(4):368–375. doi: 10.1038/ng1293-368. [DOI] [PubMed] [Google Scholar]
  30. Urioste M., Visedo G., Sanchís A., Sentís C., Villa A., Ludeña P., Hortigüela J. L., Martínez-Frías M. L., Fernández-Piqueras J. Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome. Am J Med Genet. 1994 Jan 1;49(1):77–82. doi: 10.1002/ajmg.1320490114. [DOI] [PubMed] [Google Scholar]
  31. Vergnaud G., Page D. C., Simmler M. C., Brown L., Rouyer F., Noel B., Botstein D., de la Chapelle A., Weissenbach J. A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet. 1986 Feb;38(2):109–124. [PMC free article] [PubMed] [Google Scholar]
  32. Vollrath D., Foote S., Hilton A., Brown L. G., Beer-Romero P., Bogan J. S., Page D. C. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science. 1992 Oct 2;258(5079):52–59. doi: 10.1126/science.1439769. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES