Partial trisomy 6p due to maternal t(1;6) translocation

Partial trisomy 6p with duplications ranging from 6p21 to 6p25 is emerging as an established syndrome. A case of duplication of segment p22-p25 of the short arm of chromosome 6 as the result of a maternal t (1 ;6)(q44 ;p22.2) translocation in a mentally retarded girl with congenital anomalies is reported here. The associated phenotypic anomalies are compared with other reported cases of duplication 6p involving adjacent regions.