19p13.12 Microdeletion Syndrome

19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.

Epidemiology

It has been reported in 6 patients to date.

Clinical description

Facial dysmorphism includes brachycephaly, anteverted nares, and ear malformations. Cardiac defects and abnormal behavior characterized by auto- and hetero-aggressivity and hyperactivity can be observed.

Etiology

This interstitial microdeletion was identified by comparative genomic hybridization (CGH) microarray and its size is variable.