14q11.2 Microdeletion Syndrome

14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.

Epidemiology

It has been clinically and molecularly characterized in 3 patients.

Clinical description

All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow, full lower lip and similar auricular anomalies.

Etiology

This syndrome is caused by an interstitial deletion encompassing 14q11.2. These de novo deletions were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). They have a variable size with the smallest region of overlap of 35 kb including only two genes, SUPT16H and CHD8, which are good candidate genes for the phenotype.