Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21 |
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| Authors: | V. Nataf M. V. Senat M. Albert L. Bidat P. de Mazancourt J. Roume L. Allard D. Le Tessier Y. Ville J. Selva |
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| Affiliation: | 1. Service d'Histologie-Embryologie Génétique Biologie de la Reproduction, Centre Hospitalier Intercommunal Poissy-Saint Germain en Laye, 10 Rue du Champ Gaillard, 78303 Poissy Cédex, France;2. Service de Gynécologie Obstétrique, Centre Hospitalier Intercommunal Poissy Saint Germain en Laye, 78303 Poissy Cédex, France;3. Service de Biochimie, Hôpital Raymond Poincaré, 104 Boulevard Raymond Poincaré, 92380 Garches, France;4. Service d'Histologie-Embryologie Cytogénétique, Hopital Cochin, CHU Cochin, AP-HP – Université Paris 5, 123 Boulevard de Port Royal, 75014 Paris, France |
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| Abstract: | Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd. |
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| Keywords: | 45,X male SRY SHOX prenatal |
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