16p13.11 Copy Number Variation

A rare partial deletion of the short arm of chromosome 16 syndrome characterized by global developmental, motor and language delay, epilepsy, neuropsychiatric and behavioral problems, microcephaly, short stature, dysmorphic features (that may include brachycephaly, hypertelorism, epicanthus, down-slanting palpebral fissures, short nose, low-set ears, cleft palate, wide mouth and thin upper lip) and congenital heart defects. Additional clinical features may include gastroesophageal reflux, pectus excavatum, torticollis, ligamentous hyperlaxity, obesity, body temperature instability, syndactyly, cryptorchidism, micropenis, and hypospadias.

16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.