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  • Title: Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation.
    Author: Schmid M, Wolf J, Nestler H, Krone W.
    Journal: Hum Genet; 1979 Jul 18; 49(3):283-9. PubMed ID: 478537.
    Abstract:
    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.
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