Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation

A partial trisomy for the distal segment of the long arm of chromosome 7 (bands q32 replaced by qter) was observed in a severely retarded child with somatic and CNS anomalies. The phenotypically normal father and paternal grandmother had a balanced reciprocal translocation between the long arm of a chromosome 2 and the long arm of a chromosome 7: 46,XX-XY,t(2;7) (q37;q32). The clinical features of the child at birth and at the ages of 5 months and 2 years are compared with those previously reported in cases of partial trisomy 7q.