Journal of the Korean Pediatric Society 1990;33(8):1117-1122.
Published online August 31, 1990.
A Case of Partial Trisomy 5q.
Hye Sun Choi1, Gyu Young Jung1, Eui Soo Park1, Jin Sam Ro1, Yong Gyun Back2, Myung Su Yoo2, Yul Hee Cho2, Chun Kun Lee2
1Department of Pediatrics, ST. Francisco General Hospital, Seoul, Korea
2Department of Genetics, Han Yang University, College of Medicine, Seoul, Korea
Partial Trisomy 5 q 1 례
최혜선1, 정귀영1, 박의수1, 노진삼1, 백용균2, 류명수2, 조율희2, 이춘근2
1방지거 병원 소아과
2한양대학교 의과대학 유전학교실
Received: 28 February 1990   • Accepted: 31 May 1990
Abstract
Until now, about 19cases of partial trisomy 5q were reported. The authors experienced a patient of partial trisomy 5q who admitted due to bronchiolitis and had prominent forehead, microcephaly, ptosis, dysmorphic ear, cryptorchism, flat foot, psychomotor retardation, convulsion and so on, Brain CT scan showed brain 는trophy. Chromosome study showed 46, XY, dup (5q)(13-23) As this is the first case in Korea, it is worthwhile to report with reviewing literature.
Key Words: Partial trisomy 5q




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