Hereditary 3;6 translocation : three cases of multiple malformations with partial trisomy 6p21 leads to pter.
The authors report on a family with a t(3;6). All four members of a sibship were carriers of the balanced translocation and two have had children with multiple malformations. The proband, six months old, had the karyotype 46,XY, t(3;6) (p26;p21) der pat. His clinical features were typical of the trisomy 6p syndrome. HLA typing data failed demonstrate both paternal haplotypes in the propositus.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007223:Infant; D014178:Translocation, Genetic; D014314:Trisomy