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Interstitial deletion of 17p11.2: case report and review.

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.
AuthorsM A Hamill, S H Roberts, M J Maguire, K M Laurence
JournalAnnales de genetique (Ann Genet) Vol. 31 Issue 1 Pg. 36-8 ( 1988) ISSN: 0003-3995 [Print] Netherlands
PMID3281568 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Abnormalities, Multiple (genetics)
  • Chromosome Deletion
  • Chromosomes, Human, Pair 17
  • Humans
  • Infant
  • Intellectual Disability (genetics)
  • Syndrome

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