Diploid/tetraploid mosaicism in the offspring of a 46XX/47XXX mosaic mother.
A 10½-year-old boy with an IQ of 71, short stature, and isolated growth hormone deficiency was found to have diploid/tetraploid mosaicism. He was born to a 46xx/47xxx mosaic mother. The mother was found to be moderately mentally retarded but showed no other abnormalities. A review of literature pertinent to this case is presented.
D002648:Child; D002675:Child, Preschool; D004171:Diploidy; D005260:Female; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications*; D008297:Male; D009030:Mosaicism; D011123:Polyploidy