10번 염색체 장완의 부분 중복 증후군 1례

A Case of Distal 10q Partial Trisomy Syndrome

저자들은 10번 염색체 장완 말단부 부분 중복 증후군의 특징적의 표현형을 가진 19개월 남아의 염색체 검사에서 매우 드문 10번 염색체 장완 말단부(10q25,26->qter)의 순수 중복 증후군 1례를 경험하였기에 보고하는 바이다.

Since Yunis and Sanchez described in 1974, distal 10q partial trisomy has been recognised as a chromosomal anomaly, which has typical features, psychomotor delays, distinctive dysmorphic appearance and growth retardation. Also, it is associated with cardiac, renal and ocular anomalies. Most of them result from an unbalanced tanslocation or a deletion but, pure duplications are very rare. We report a 19-month-old boy with typical clinical features of distal 10q partial trisomy with a pure duplicatin of 10q.