Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:) |
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Authors: | J P Fryns A Kleczkowska A Vogels H Van den Berghe |
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Affiliation: | Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium. |
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Abstract: | In this report we present a 9-year-old boy with mental retardation, behavioural problems and terminal deletion of the short arm of chromosome 8(8pter----8p23.1:). In contrast with previously reported patients with larger terminal and interstitial 8p deletions he did not present major phenotypic abnormalities. |
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