Three children with partial trisomy 1q and partial monosomy 3p.
We report a kindred in which three children suffer from partial trisomy 1q and partial monosomy 3p, transmitted by a balanced translocation which is maternal in one family and paternal in the other. The clinical features of the three children are similar and include severe mental handicap and severe scoliosis in the older two.
D002648:Child; D002878:Chromosomes, Human, Pair 1; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014314:Trisomy