Interstitial deletion of 17p11.2: case report and review
Hamill, M.A.; Roberts, S.H.; Maguire, M.J.; Laurence, K.M.
Annales de Genetique 31(1): 36-38
1988
ISSN/ISBN: 0003-3995 PMID: 3281568 Document Number: 324073
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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