All issues > Volume 46(5); 2003

Case Report

J Korean Pediatr Soc. 2003;46(5):510-513. Published online May 15, 2003.

A Case of Partial Inverted Duplication of Chromosome 7q

Hyun Ji HJ Kim¹, So Young SY Lee¹, Mi Young MY Kim¹, Chung Sun CS Baek², Won Duck WD Kim¹, Dong Seok DS Lee¹, Doo Kwun DK Kim¹, Sung Min SM Choi¹

¹Department of Pediatrics, College of Medicine, Dongguk University, Kyongju, Korea
²Department of Pediatrics, College of Medicine, Dongguk University, Kyongju, Korea

Correspondence Won Duck WD 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.

Keywords :Pure partial duplication, Chromosome 7q, Growth and developmental retardation