Interstitial deletion of 17p11.2: case report and review |
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Authors: | M A Hamill S H Roberts M J Maguire K M Laurence |
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Institution: | Regional Cytogenetics Unit, University Hospital of Wales, Cardiff. |
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Abstract: | A child with mental retardation and multiple congenital abnormalities, including brachycephaly, an unusual facies, brachydactyly, clinodactyly and bilateral talipes valgus, was found to have a small interstitial deletion of the short arm of chromosome 17. The clinical features and cytogenetic observations are compared with those in previously reported cases. |
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