title: Mosaic 45,xy,-21/46,xy in a child with G deletion syndrome I.
abstract: A mosaic 45,XY,-21/46,XY was found in a boy with G deletion syndrome I who showed microcephaly, downward, antimongoloid slanted eyes, micrognathism, large, low set ears, small penis and bilateral inguinoscrotal hernia.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002904:Chromosomes, Human, 21-22 and Y; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D013577:Syndrome