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. 1999 Jul;36(7):549–553.

Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome

M Tzancheva 1, R Kaneva 1, P Kumanov 1, G Williams 1, C Tyler-Smith 1
PMCID: PMC1734411  PMID: 10424817

Abstract

Turner syndrome is thought to result from the haploinsufficiency of genes on the sex chromosomes, but these genes have not been identified yet. We describe two males with deleted ring Y chromosomes, one (TS) with full Turner syndrome and one (DM) without. TS has short stature, skeletal anomalies, lymphogenic obstruction, cardiovascular abnormalities, and miscellaneous features including pigmented naevi, antimongoloid slanting of the palpebral fissures, and widely spaced nipples. In contrast, DM has short stature but no other specific Turner stigmata except high arched palate and a few pigmented naevi. Since little chromosomal mosaicism was detected, the different segments of the Y chromosome retained by these two males identify the location of one or more "anti-Turner" genes. Most of the Yp pseudoautosomal region and Yq were deleted from both patients during the formation of the ring chromosome, while the Y specific portion of Yp and the centromere were retained. The major difference detected was an interval of proximal Yq present in DM and deleted in TS. None of the previously identified genes, DFFRY, DBY, UTY, or TB4Y, lies entirely within this interval, although DFFRY was truncated by DM's breakpoint. These data suggest that one or more additional "anti-Turner" gene(s) remains to be identified in the region of Yq proximal to DFFRY.


Keywords: Turner syndrome; Y chromosome; deletion mapping; candidate genes

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Selected References

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  1. Barbaux S., Vilain E., Raoul O., Gilgenkrantz S., Jeandidier E., Chadenas D., Souleyreau N., Fellous M., McElreavey K. Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata. Hum Mol Genet. 1995 Sep;4(9):1565–1568. doi: 10.1093/hmg/4.9.1565. [DOI] [PubMed] [Google Scholar]
  2. Brown G. M., Furlong R. A., Sargent C. A., Erickson R. P., Longepied G., Mitchell M., Jones M. H., Hargreave T. B., Cooke H. J., Affara N. A. Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene. Hum Mol Genet. 1998 Jan;7(1):97–107. doi: 10.1093/hmg/7.1.97. [DOI] [PubMed] [Google Scholar]
  3. Ellison J. W., Wardak Z., Young M. F., Gehron Robey P., Laig-Webster M., Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet. 1997 Aug;6(8):1341–1347. doi: 10.1093/hmg/6.8.1341. [DOI] [PubMed] [Google Scholar]
  4. FERGUSON-SMITH M. A. KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS. J Med Genet. 1965 Jun;2(2):142–155. doi: 10.1136/jmg.2.2.142. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Fisher E. M., Beer-Romero P., Brown L. G., Ridley A., McNeil J. A., Lawrence J. B., Willard H. F., Bieber F. R., Page D. C. Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Cell. 1990 Dec 21;63(6):1205–1218. doi: 10.1016/0092-8674(90)90416-c. [DOI] [PubMed] [Google Scholar]
  6. 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]
  7. Lahn B. T., Page D. C. Functional coherence of the human Y chromosome. Science. 1997 Oct 24;278(5338):675–680. doi: 10.1126/science.278.5338.675. [DOI] [PubMed] [Google Scholar]
  8. Lobaccaro J. M., Lumbroso S., Belon C., Medlej R., Berta P., Sultan C. Gènes du chromosome Y et syndrome de Turner. Ann Endocrinol (Paris) 1994;54(5):323–329. [PubMed] [Google Scholar]
  9. Ogata T., Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet. 1995 Jun;95(6):607–629. doi: 10.1007/BF00209476. [DOI] [PubMed] [Google Scholar]
  10. Ogata T., Tyler-Smith C., Purvis-Smith S., Turner G. Chromosomal localisation of a gene(s) for Turner stigmata on Yp. J Med Genet. 1993 Nov;30(11):918–922. doi: 10.1136/jmg.30.11.918. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Page D. C., Mosher R., Simpson E. M., Fisher E. M., Mardon G., Pollack J., McGillivray B., de la Chapelle A., Brown L. G. The sex-determining region of the human Y chromosome encodes a finger protein. Cell. 1987 Dec 24;51(6):1091–1104. doi: 10.1016/0092-8674(87)90595-2. [DOI] [PubMed] [Google Scholar]
  12. Rao E., Weiss B., Fukami M., Rump A., Niesler B., Mertz A., Muroya K., Binder G., Kirsch S., Winkelmann M. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet. 1997 May;16(1):54–63. doi: 10.1038/ng0597-54. [DOI] [PubMed] [Google Scholar]
  13. Salo P., Käriäinen H., Page D. C., de la Chapelle A. Deletion mapping of stature determinants on the long arm of the Y chromosome. Hum Genet. 1995 Mar;95(3):283–286. doi: 10.1007/BF00225194. [DOI] [PubMed] [Google Scholar]
  14. 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]
  15. 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]
  16. Watanabe M., Zinn A. R., Page D. C., Nishimoto T. Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Nat Genet. 1993 Jul;4(3):268–271. doi: 10.1038/ng0793-268. [DOI] [PubMed] [Google Scholar]
  17. Zinn A. R., Page D. C., Fisher E. M. Turner syndrome: the case of the missing sex chromosome. Trends Genet. 1993 Mar;9(3):90–93. doi: 10.1016/0168-9525(93)90230-f. [DOI] [PubMed] [Google Scholar]

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