Summary
A partial trisomy for the distal segment of the long arm of chromosome 7 (bands q32→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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Schmid, M., Wolf, J., Nestler, H. et al. Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation. Hum Genet 49, 283–289 (1979). https://doi.org/10.1007/BF00569348
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DOI: https://doi.org/10.1007/BF00569348