Summary
A 45,X complement was found in lymphocyte and fibroblast cultures of a male infant with severe growth and mental retardation and mild dysmorphism. Lymphocyte DNA from this patient was found to contain Yp chromosome sequences. In situ hybridization (ISH) with the 50f2 probe led to a clear assignment of euchromatic material on the short arm of chromosome 1. This observation and others from the literature argue in favour of the conclusion that all 45.X males are probably either the result of undetected mosaicism or are carriers of Y translocated material.
References
Abuelo DN, Barsel-Bower S (1988) Two males with amniotic fluid 45,X karyotypes. Am J Hum Genet 43:A224
Affara NA, Ferguson-Smith MA, Magenis RE, Tolmie JL, Boyd E, Cooke A (1987) Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes. Nucleic Acids Res 15:7325–7342
Andersson M, Page DC, Pettay D, Subrt I, Turleau C, Grouchy J de, Chapelle A de la (1988) Y: autosome translocation and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11. Hum Genet 79:2–7
Benet J, Fuster C, Genescà A, Navarro J, Miró R, Egozcue J, Templado C (1989) Expression of fragile sites in human sperm and lymphocyte chromosomes. Hum Genet 81:239–242
Chapelle A de la, Page DC, Brown L, Kaski U, Parvinen T, Tipett PA (1986) The origin of 45,X males. Am J Hum Genet 38:330–340
Disteche CM, Brown L, Saal H, Friedman C, Thuline HC, Hoar DI, Pagon RA, Page DC (1986) Molecular detection of a translocation (Y/15) in a 45,X male. Hum Genet 74:372–377
Forabosco A, Carratu A, Assuma M, De Pol A, Dutrillaux B, Chelic E (1977) Male with 45,X karyotype. Cin Genet 12:97–100
Fraccaro M, Lindsten J, Klinger HP, Tiepolo L, Bergstrand CG, Herrlin KM, Livaditis A, Pehrson M, Tillinger KG (1966) Cytogenetical and clinical investigations in four subjects with anomalies of sexual development. Ann Hum Genet 29:281–304
Fraccaro M, Lindsten J, Lo Curto F (1987) The origin and phenotype of XO males. Hum Genet 75:392–397
Gal A, Weber B, Neri G, Serra A, Muller U, Schempp W, Page DC (1987) A 45,X male with Y specific DNA translocated onto chromosome 15. Am J Hum Genet 40:477–488
Harper ME, Saunders GF (1981) Localisation of single copy DNA. Sequences on G-banded human chromosome by in situ hybridization. Chromosoma 83:431–439
Lau YF, Ying KL, Donnell GN (1985) Identification of a case of Y/18 translocation using a Y specific DNA probe. Hum Genet 69:102–105
Lo Curto F, Pucci E, Scappaticci S, Scotta S, Severi F, Burgio GR, Fraccaro M (1974) XO and male phenotype. Am J Dis Child 128:90–92
Maserati E, Waibel F, Weber B, Fraccaro M, Gal A, Pasquali F (1986) A 45,X male with Yp/18 translocation. Hum Genet 74:126–132
Mattei MG, Philipp N, Passage E, Moisan JP, Mandel JL, Mattei JF (1985) DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet 69:268–271
Münke M, Page DC, Brown LG, Armson BA, Zackai EH, Mennuti MT (1988) Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male. Hum Genet 80:219–223
Perry P, Wolff S (1974) New Giemsa method for the differential staining of sister chromatids. Nature 251:156–158
Schempp W, Weber B, Serra A, Neri G, Gal A, Wolf U (1985) A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15. Hum Genet 71:150–154
Seidel H, Miller K, Spoljar M, Stengel-Rutkowski S (1981) 45. X constitution in a H-Y antigen positive boy with partial monosomy 5p. Clin Genet 19:290–297
Sheehy RR, Brown WG, Warren R, Schwartzmann M, Magenis RE (1985) Y specific sequences in 45,X male with in situ hybridization (abstract). Am J Hum Genet 37:A342
Subrt I, Blehova B (1974) Robertsonian translocation between the chromosome Y and 15. Humangenetik 23:305–309
Turleau C, Chavin-Colin F, Grouchy J de (1980) A 45,X male with translocation of euchromatin Y chromosome material. Hum Genet 53:299–302
Vignetti P, Chessa L, Ferrante E, Dallapiccola B (1977) Translocation Y/5 resulting in the “cri du chat” syndrome. Clin Genet 12:319–322
Weber B, Schempp W, Orth U, Seidel H, Gal A (1987) A Y/5 ranslocation in a 45. X male with cri du chat syndrome. Hum Genet 77:145–150
Yunis JJ (1976) High resolution of human chromosomes. Science 191:1268–1272
Yunis E, Quintero L, Leibovici M (1981) Monosomy 1 pter. Hum Genet 56:279–282
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Abbas, N., Novelli, G., Stella, N.C. et al. A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1. Hum Genet 86, 94–98 (1990). https://doi.org/10.1007/BF00205184
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DOI: https://doi.org/10.1007/BF00205184