Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation |
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Authors: | M Schmid J Wolf H Nestler W Krone |
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Institution: | (1) Abteilung Humangenetik, Universität Ulm, P.O. Box 4066, D-7900 Ulm, Federal Republic of Germany;(2) Institut für Humangenetik, Universität Göttingen, Nikolausberger Weg 5a, D-3400 Göttingen |
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Abstract: | Summary A partial trisomy for the distal segment of the long arm of chromosome 7 (bands q32qter) 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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