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Deletion mapping of stature determinants on the long arm of the Y chromosome

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Abstract

A gene contributing to human growth has previously been tentatively mapped to the long arm of the Y chromosome. In the present study, recently developed sequence-tagged site markers covering the entire Y chromosome were used to define deletion breakpoints in 15 males with partial deletions of Yq. By correlating the height of these individuals with their deletion breakpoints, we located a region whose presence or absence has a marked effect on stature. This critical region comprises the most proximal portion of the long arm, extending from marker sY78 in interval 4B to marker sY94 in interval 5G of the proximal long arm.

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References

  • Alvesalo L, Chapelle A de la (1981) Tooth sizes in two males with deletions of the long arm of the Y-chromosome. Ann Hum Genet 45:49–54

    Google Scholar 

  • Bardoni B, Zuffardi O, Guioli S, Ballabio A, Simi P, Cavalli P, Grimoldi MG, Fraccaro M, Camerino G (1991) A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 11:443–451

    Google Scholar 

  • Bühler EM (1980) A synopsis of the human Y chromosome. Hum Genet 55:145–175

    Google Scholar 

  • Chapelle A de la (1972) Nature and origin of males with XX sex chromosomes. Am J Hum Genet 24:71–105

    Google Scholar 

  • Chapelle A de la, Hording H (1962) XY/XO mosaicism. Lancet 2:783–784

    Google Scholar 

  • Chapelle Ade la, Hortling H (1963) Cytogenetical and clinical observations in male hypogonadism. Acta Endocrinol 44:165–182

    Google Scholar 

  • Crolla JA, Smith M, Docherty Z (1989) Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes. J Med Genet 26:192–194

    Google Scholar 

  • Foote S, Vollrath D, Hilton A, Page DC (1992) The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 258:60–66

    Google Scholar 

  • Goodfellow PN, Davies KE, Ropers H-H (1985) Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet. 40:296–352

    Google Scholar 

  • Kaluzewski B, Jokinen A, Hortling H, Chapelle A de la (1978) A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. Presentation of three cases. Ann Genet 21:5–11

    Google Scholar 

  • Kosztolányi G, Trixler M (1983) Yq deletion with short stature, abnormal male development and schizoid character disorder. J Med Genet 20:393–394

    Google Scholar 

  • Langmaid H, Laurence KM (1974) Deletion of the long arms of the Y chromosome with normal male development and intelligence. J Med Genet 11:208–211

    Google Scholar 

  • Mueller WH (1986) The genetics of size and shape in children and adults. In: Falkner F, Tanner JM (eds) Human growth. Plenum, New York, pp 145–168

    Google Scholar 

  • Ogata T, Matsuo N (1992) Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene. J Med Genet 29:539–541

    Google Scholar 

  • Page DC (1987) Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 101 (Suppl):151–155

    Google Scholar 

  • Petrovic V, Nasioulas S, Chow CW, Voullaire L, Schmidt M, Dahl H (1992) Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. J Med Genet 29:542–546

    Google Scholar 

  • Podruch PE, Yen F-S, Dinno ND, Weisskopf B (1982) Yqin a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation. J Med Genet 19:377–380

    Google Scholar 

  • Skare J, Drwinga H, Wyandt H, vanderSpek J, Troxler R, Milunsky A (1990) Interstitial deletion involving most of Yq. Am J Med Genet 36:394–397

    Google Scholar 

  • Sorva R, Perheentupa J, Tolppanen E-M (1984) A novel format for a growth chart. Acta Paediatr Scand 73:527–529

    Google Scholar 

  • Telfer M, Baker D, Rollin I (1973) Probable long-arm deletion of Y chromosome in boy of short stature. Lancet 1:608

    Google Scholar 

  • Vollrath D, Foote S, Hilton A, Brown LG, Beer-Romero P, Bogan JS, Page DC (1992) The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 258:52–59

    Google Scholar 

  • Yunis E, García-Conti FL, Torres de Caballero OM, Giraldo A (1977) Yq deletion, aspermia, and short stature. Hum Genet 39:117–122

    Google Scholar 

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Salo, P., Kääriäinen, H., Page, D.C. et al. Deletion mapping of stature determinants on the long arm of the Y chromosome. Hum Genet 95, 283–286 (1995). https://doi.org/10.1007/BF00225194

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  • DOI: https://doi.org/10.1007/BF00225194

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