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A Case of 7q-Syndrome

Journal of the Korean Pediatric Society 1992;35(3):422-427.
Published online March 15, 1992.
A Case of 7q-Syndrome
Ja Hyun Park, Baek Gil Lee, Il Kyung Kim, Jung Sik Min, Chang Hee Choi
Department of Pediatrics, Seoul Adventist Hospital, Seoul, Korea
7q-증후군(7q327qter)1례
박자현, 이백길, 김일경, 민정식, 최창희
서울위생병원 소아과
Abstract
7q-syndrome, although rare, is a well defined syndroime which usually arises de novo. Characteristic clinical features include severe growth and metal retardation, microcephaly, low birth weight, broad nasal bridge with bulbous nasal tip, large, low set ears and genital anomalies. We experienced a male newborn with clinical features suggestive of chromosomal anomaly which was confirmed to be a 7q-(q32-qter) syndrome by cytogenetic analysis. A brief review of literature was made.
Key Words: 7q-syndrome, Chromosomal anomaly


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