Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21.
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.
Nataf
V
V
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.
Senat
M V
MV
Albert
M
M
Bidat
L
L
de Mazancourt
P
P
Roume
J
J
Allard
L
L
Le Tessier
D
D
Ville
Y
Y
Selva
J
J
D000328:Adult; D000649:Amniocentesis; D019457:Chromosome Breakage; D002891:Chromosomes, Human, Pair 21; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008423:Maternal Age; D009687:Nuclear Proteins; D010641:Phenotype; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D012729:Sex Chromosome Aberrations; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014178:Translocation, Genetic
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors