A Cse of Partial Trisomy 10q Syndrome / 대한주산의학회잡지

ABSTRACT

Partial trisomy 10q syndrome is a rare chromosome anomaly characterized by severe mental and growth retardation, craniofacial dysmorphia with prominent forehead, fine arched eyebrows, deep set small eyes and micrognathia, In addition, other physical manifestations have been reported as skeletal anomaly, congenital heart disease, inguinal hernia, and so on. We report a case of partial trisomy 10q syndrorne with certain stigmata which confirmed by chromosome analysis.