Journal of the Korean Pediatric Society 2003;46(5):510-513.
Published online May 15, 2003.
A Case of Partial Inverted Duplication of Chromosome 7q
Hyun Ji Kim1, So Young Lee1, Mi Young Kim1, Chung Sun Baek2, Won Duck Kim1, Dong Seok Lee1, Doo Kwun Kim1, Sung Min Choi1
1Department of Pediatrics, College of Medicine, Dongguk University, Kyongju, Korea
2Department of Pediatrics, College of Medicine, Dongguk University, Kyongju, Korea
염색체 7번 장완의 부분적 역위 중복 1례
김현지1, 이소영1, 김미영1, 백청순2, 김원덕1, 이동석1, 김두권1, 최성민1
1동국대학교 의과대학 소아과학교실
2삼광임상검사센터
Correspondence: 
Won Duck Kim, Email: neogubugi@yahoo.co.kr
Abstract
Duplication of chromosome 7q has been reported as either partial or complete. Partial 7q duplication was first described by Carpentier in 1972. Pure partial duplication of the long arm of chromosome 7 is extremely rare and only 16 cases with a pure partial duplication of different 7q segment have been described in the literature. Pure partial duplication of the long arm of chromosome 7 is characterized by growth and developmental retardation, muscular hypotonia, distinct craniofacial dysmorphic features, a short neck and skeletal abnormalities. A 3 month-old male was referred to our department of Pediatrics because of dyspnea, hypotonia and delayed development. He shows growth and developmental delay, hypertelorism, a depressed nasal bridge, low set ears, a short neck and muscular hypotonia. Karyotype revealed 46, XY, dup(7)(q36q33) by GTC-banding. We report a case of a partial inverted duplication of chromosome 7q.
Key Words: Pure partial duplication, Chromosome 7q, Growth and developmental retardation


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