Article
Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.
Clinical genetics - 1 Feb 2000
Prasad C, Prasad A N, Chodirker B N, Lee C, Dawson A K, Jocelyn L J, Chudley A E
Abstract excerpt
The evaluation of mental retardation is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Several genetic disorders have been identified to have certain behavioral characteristics, such as Williams syndrome, Smith-Magenis syndrome, and the velocardiofacial syndrome (VCFS). The deletion affecting the chromosome 22q in the most...
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