Abstract
We characterized by fluorescence in situ hybridization and Southern blotting 14 partial Xq monosomies, 11 due to terminal deletions and 3 secondary to X/autosome translocations. Three cases were mosaics with a XO cell line. In view of the possible role played by telomeres in chromosome segregation, we hypothesize a relationship between the loss of telomeric sequences in terminal deletions and the presence of 45,X cells. A correlation between phenotype and extent of deletion revealed that there is no correspondence between the size of the deletion and impairment of gonadal function. Turner stigmata are absent in patients without an XO cell line, when the breakpoint is distal to Xg24. A low birthweight is present whenever the breakpoint is at q22 or more proximal.
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References
Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, Maraschio P, Zuffardi O (1989) Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 86: 10001–10005
Blackburn EH (1991) Structure and function of telomeres. Nature 350: 569–573
Borgaonkar DS (1994) Chromosomal variation in man. A catalog of chromosomal variants and anomalies, 7th edn. Wiley Liss, New York
Chelly J, Timer Z, Tonnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, Horn N, Monaco AP (1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 3: 14–19
Dutrillaux B, Viegas-Pequignot E (1981) High resolution R- and G-banding on the same preparation. Hum Genet 57: 93–95
Flint J, Craddock CF, Villegas A, Bentley DP, Williams HJ, Galanello R, Cao A, Wood WG, Ayyub H, Higgs DR (1994) Healing of broken human chromosomes by the addition of telomeric repeats. Am J Hum Genet 55: 505–512
Geerkens C, Just W, Vogel W (1994) Deletions of Xq and growth deficit: a review. Am J Med Genet 50: 105–113
Guerrini AM, Camponeschi B, Ascenzioni F, Piccolella E, Donini P (1993) Subtelomeric as well telomeric sequences are lost from chromosomes in proliferating B lymphocytes. Hum Mol Genet 2: 455–460
Held KR, Becker B, Kaminsky E, Lohier J, Goetz P, Seemanova E (1995) Have all Turner's mosaicism? State of the art: about investigation in clinical practice. Proceedings of the Fourth International Symposium on Turner syndrome, Goddenborg, 18–21 May 1995. Ex Medica International Congress series 1089. (in press)
Henke A, Wapenaar M, Van Ommen G, Maraschio P, Camerino G, Rappold G (1991) Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. Am J Hum Genet 49: 811–819
Just W, Geerkens C, Held KR, Vogel W (1992) Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome. Hum Genet 89: 240–242
Kim NW, Piatyszek MA, Prowse KR, Harley CB, West MD, Ho PLC, Coviello GM, Wright WE, Weinrich SL, Shay JW (1994) Specific association of human telomerase activity with immortal cells and cancer. Science 266: 2011–2015
Latt SA (1974) Microfluorometric analysis of DNA replication in human X chromosomes. Exp Cell Res 86: 412–415
Maraschio P, Fraccaro M (1983) Phenotypic effects of X-chromosome deficiencies. Cytogenetics of the mammalian X chromosome, part B: X chromosome anomalies and their clinical manifestation. Alan R Liss, New York, pp 359–369
Morin GB (1991) Recognition of a chromosome truncation site associated with β-thalassemia by human telomerase. Nature 353: 454–456
Moyzis RK, Buckingham JM, Cram LS, Dani M, Deaven LL, Jones MD, Meyne J, Ratliff RL, Wu JR (1988) An highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes. Proc Natl Acad Sci USA 85: 6622–6626
Oberlé I, Camerino G, Wrogemann F, Arveiler B, Hanaver A, Raimondi E, Mandel JL (1987) Multipoint genetic mapping of the Xg26–q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26–q27. Hum Genet 77: 60–65
Ogata T, Matsuo N (1995) Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 95: 607–629
Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P (1992) Chromosomal localisation of a pseudoautosomal growth gene(s). J Med Genet 29: 624–628
Schwarzacher-Robinson T, Cram LS, Meyne J, Moyzis RK (1988) Characterization of human heterochromatin by in situ hybridization with satellite DNA clones. Cytogenet Cell Genet 47: 192–196
Skibsted L, Westh H, Niebuhr E (1984) X long arm deletions. A review of non mosaic cases studied with banding techniques. Hum Genet 67: 1–5
Therman E, Susman B (1990) The similarity of phenotypic effects caused by Xp and Xq deletions in the human female; a hypothesis. Hum Genet 85: 175–183
Walker CL, Cargile CB, Floy KM, Delannoy M, Migeon BR (1991) The barr body is a looped X chromosome formed by telomere association. Proc Natl Acad Sci USA 88: 6191–6195
Wilkie AOM, Lamb J, Harris PC, Finney RD, Higgs DR (1990) A truncated human chromosome 16 associated with thalassemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature 346: 868–871
Wright WE, Shay JW (1992) Telomere positional effects and the regulation of cellular senescence. Trends Genet 8: 193–197
Zuffardi O, Maraschio P, Lo Curio F, Müller U, Giarola A, Perotti L (1982) The role of Yp in sex determination: new evidence from X/Y translocations. Am J Med Genet 12: 175–184
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Maraschio, P., Tupler, R., Barbierato, L. et al. An analysis of Xq deletions. Hum Genet 97, 375–381 (1996). https://doi.org/10.1007/BF02185777
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DOI: https://doi.org/10.1007/BF02185777