The phenotype of a 45,X male with a Y/18 translocation

Clinical Genetics

Volumn 49, Issue 1, 1996, Pages 37-41

  Gimelli, Giorgio ^a,c   Cinti, Roberta ^a   Varone, Paolo ^a   Naselli, Arturo ^b   Di Battista, Eliana ^b   Pezzolo, Annalisa ^c  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

Chromosome 18; Chromosome Y fluorescence in situ hybridization; Unbalanced translocation; XO male

Indexed keywords

ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME 18P; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION Y; CHROMOSOME YQ; CLINICAL FEATURE; DICENTRIC CHROMOSOME; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; HUMAN CELL; KARYOTYPE 45,X; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SPERMATOGENESIS; Y CHROMOSOME;

EID: 0029876356     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb04322.x     Document Type: Article

References (27)

1. Alvesalo L, De la Chapelle A. Tooth size in two males with deletions of the long arm of the Y chromosome. Ann Hum Genet 1981: 45: 49-54.
2. Andersson M, Page DC, Pettay D, Subrt I, de Grouchy J, De la Chapelle A. Y:autosome translocations and mosaicism in the aetiology of 45,X maleness; assignment of fertility factor to distal Yq11. Hum Genet 1988: 79: 2-7.
3. Arnemann J, Jakubiczka S, Scmidtke J, Schafer R, Epplen JT. Clustered GATA repeats (Bkm sequences) on the human Y chromosome. Hum Genet 1986: 73: 301-303.
4. Ballabio A, Carozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E., Affara N, Yates J, Ferguson-Smith MA, Frants RR, Eriksson AW, Andria G. Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients at DNA and protein levels. Genomics 1989: 4: 36-40.
5. Chandley AC, Gosden JR, Hargreave TB, Spowart G, Speed RM, McBeath S. Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs). J Med Genet 1989: 26: 145-153.
6. Ellis NA, Goodfellow PJ, Pym P, Smith M, Palmer M, Frischauf AM, Goodfellow PN. The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. Nature 1989: 337: 81-84.
7. Fraccaro M, Lindsten J, Lo Curto F. The origin and phenotype of X0 males. Hum Genet 1987: 75: 392.
8. Koenig M, Camerino G, Heilig R, Mandel JL. A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosome long arm. Nucleic Acid Res 1984: 12: 4097-4109.
9. Kuwano A, Kajii T. High-resolution banding in chromosomes of B lymphoblastoid cells and cultured skin fibroblasts. Cytogenet Cell Genet 1991: 56: 212-213.
10. Lichter P, Cremer T, Bordeu J, Manuelidis L, Ward DC. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet 1988: 80: 224-234.
11. Maserati E, Waibel F, Fraccaro M, Gal A, Pasquali F, Schemp W, Scherer G, Vaccaro R, Weissenbach J, Wolf U. A 45,X male with a Yp/18 translocation. Hum Genet 1986: 74: 126-132.
12. Munke M, Page DC, Brown LG, Armson BA, Zackai EH, Mennuti MT, Emanuel BS. Molecular detection of a Y/18 translocation in a 45,X holoprosencephalic male. Hum Genet 1988: 80: 219-223.
13. Neitzel H. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 1986: 73: 320-326.
14. 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: 30: 918-922.
15. Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 1986: 83: 2934-2938.
16. Rivera H, Diaz-Castanos L. Is Yq11 the main critical segment in balanced Y;autosome transtocations? Ann Genet 1992: 35: 224-226.
17. Rouyer F, Simmler MC, Page DC, Weissenbach J. A chromosome rearrangement in a human XX male caused Alu-Alu recombination. Cell 1987: 51: 417-125.
18. Schweizer D. Counterstain-enhanced chromosome banding. Hum Genet 1981: 57: 1-14.
19. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Bedge R, Goodfellow PN. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 1990: 346: 240-244.
20. Singh L, Jones KW. Bkm sequences are polymorphic in humans and are clustered in pericentric regions of various acrocentric chromosomes including the Y. Hum Genet 1986: 73: 304-308.
21. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976: 34: 119-124.
22. Tyler-Smith C, Brown WRA. Structure of the major block of alphoid satellite DNA on the human Y chromosome. J Mol Biol 1987: 195: 457-470.
23. Van Hemel JO, Eussen B, Wesby-van-Swaay E, Oostra BA. Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome. Hum Genet 1992: 88: 661-667.
24. Vergnaud G, Page DC, Simmler MC, 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: 38: 109-124.
25. Weil D, Portnoi MF, Levilliers J, Wang I, Mathieu M. Taillemite JL. Meier M. Boudailliez B. Petit C. A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata. Hum Mol Genet 1993: 2: 1853-1856.
26. Wevrick R. Willard HF. Long-range organization of tandem arrays of α-satellite DNA at the centromeres of human chromosomes: high-frequency array-length polymorphism and meiotic stability. Proc Natl Acad Sci USA 1989: 86: 9394-9398.
27. Wolfe J. Darling SM. Erickson RP. Craig IW. Buckle VJ. Rigby PWJ. Willard HF. Goodfellow PN. Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol 1985: 182: 47-485.