Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases.
Two cases of the Prader-Willi syndrome with 46,XY/47,XY,+mar are reported. The majority of Prader-Willi patients with chromosome abnormalities have either 15/15 translocations or mosaicism. Both of these aberrations presumably occur after fertilization. A possible relationship between high parental age and chromosome abnormalities in the Prader-Willi syndrome is discussed.
D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008423:Maternal Age; D009030:Mosaicism; D010331:Paternal Age; D011218:Prader-Willi Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome