Distal deletion of the long arm of chromosome 6: A specific phenotype ?
- 1 May 1986
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 24 (1) , 175-178
- https://doi.org/10.1002/ajmg.1320240122
Abstract
We report on an8‐month‐old girl with a de novo 5q/6q autosomal translocation with loss of the distal part of the long arm of chromosome 6 (6q23.3→6qter); clinical manifestations are peculiar craniofacial stigmata, truncal obesity and persisting hypotonia. The similarity with a previously reported patient with 6q interstitial deletion is discussed.Keywords
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