Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability.

Abstract excerpt

The deletion of the long arm of chromosome 18 causes a contiguous gene deletion syndrome with a highly variable phenotype, usually related to the extent of the deleted region. The most commonly reported clinical features include: decreased growth, microcephaly, facial abnormalities, hypotonia, developmental delay, intellectual disability, congenital aural atresia with hearing impairment and limb anomalies. Here...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Body Height
• Share to Child