Chromosome 22 mosaic monosomy (46,XY/45,XY,-22).
A slightly dysmorphic and mentally defective child with mosaic monosomy 22 is reported. Chromosome 22 is absent in 10.5% of lymphocytes and 8.3% of fibroblasts. This is the second case report of that kind.
D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D008297:Male; D009006:Monosomy; D009030:Mosaicism