Interstitial deletion of 17p11.2: case report and review.
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.
Hamill
M A
MA
Regional Cytogenetics Unit, University Hospital of Wales, Cardiff.
Roberts
S H
SH
Maguire
M J
MJ
Laurence
K M
KM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D013577:Syndrome