Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features.

Abstract excerpt

Deletions of chromosome 14q32.2 often involve the imprinted region of chromosome 14, giving rise to paternal or maternal UPD(14)-like phenotypes. A few individuals with deletions that spare the imprinted region have been reported, with significant variability in deletion size and gene involvement. Four patients with proximal deletions of 14q32.2 were gathered from the primary authors' clinic or through the...

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