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Updated: Oct 13, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Interstitial deletion of 17p11.2: case report and review
M A Hamill1, S H Roberts, M J Maguire
1Regional Cytogenetics Unit, University Hospital of Wales, Cardiff.
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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