450 Chromosome 16p11.2 deletion syndrome and ohvira. importance of genetic testing in girls with genital anomaly

Abstract

Chromosome 16 deletion syndrome is find out in 3 of 10,000 newborns. The deletion is found in 1 in 100 people with autism; caused by the absence of a part in a certain region of chromosome 16, designated as p11.2. Methods and results: A 16 year old patient girl. Menarche at age 12. Menses regularly, profuse, painful. With regard to mental retardation and behavioral disorders was observed from an early age but never consulted by geneticist. At the age of 16, due to a cycle disorder –anomaly uterine bleedind, she was first examined by a gynecologist.