[Dicentric Y chromosome in a male pseudohermaphrodite 45,X/46,X, dic (Y)/47, XYY].
The mosaicism 45,X/46,XY,terrea(Y,Y)(pterpter)/47,XYY was observed in an 8-month-old child with male pseudohermaphroditism. The presence of a 47,XYY population points to a post-zygotic origin of the rearrangement. The loss of Yp material is in favor of localization of masculinization factor(s) to the proximal segment of Yq. Twenty-two relevant observations reported in the literature previously are discussed.
D002875:Chromosomes; D012734:Disorders of Sex Development / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D012729:Sex Chromosome Aberrations; D014997:XYY Karyotype; D014998:Y Chromosome
Chromosome Y dicentrique chez un pseudohermaphrodite masculin, [45,X/46,X, dic (Y)/47, XYY].