Chromosome subband 17p11.2 deletion: a minute deletion syndrome.

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Abstract
Interstital deletion of the short arm of chromosome 17 was detecteed in three unrelated patients with mental retardation and multiple congenital malformations. These paients were identified at a single centre over a six month period suggesting that del(17)(p11.2p11.2) is not a rare constitutional chromosome rearrangement. Comparison of the phenotypic features in a total of 19 patients with del(17)(p11.2p11.2) shows a consistent clinical phenotype with moderate to severe mental retardation, microbrachycephaly, prominent forehead, broad face, flat midface, prognathism, short, broad hands, and behavioral anomalies such as self-multilation. The sex ratio is unremarkable, parental ages are normal, and survival is usually unimpaired. Chromosome resolution of at least 500 bands appears necessary to detect this deletion.