1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development.

摘要: Abstract Several Wolf-Hirschhorn syndrome patients have been studied, mouse models for a few candidate genes constructed and two WHS critical regions postulated, but the molecular basis of remains poorly understood. Single gene contributions to phenotypes microdeletion syndromes often based on study carrying small, atypical deletions. We report 5-year-old girl harboring an 1.5 Mb del4p16.3 review seven previously published similar deletion. They show variable clinical presentation only consistent feature is post-natal growth delay. However, four eight carry ring (4), chromosomes in general are associated with deficiency. The Greek helmet profile absent, although trend towards common dysmorphic features exists. Variable expressivity incomplete penetrance might play role WHS, resulting difficult diagnosis challenge understanding genotype/phenotype correlation.