15q14 Microdeletion Syndrome

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

Epidemiology

It has been described in 4 patients so far.

Clinical description

Dysmorphic features include bitemporal narrowing, smooth philtrum, pointed chin and dysmorphic ears. All reported patients had a cleft palate, whereas congenital heart defects or epilepsy are observed in patients with large deletions.

Etiology

Deletions are located within chromosome band 15q14, distal to the Prader-Willi/Angelman region. They were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). They have a variable size with the smallest deletion being 1.6 Mb in length.