A Case of 7q-Syndrome.

Yoon,  Kye Nam; Oh,  Jin Hee; Kim,  Jong Hyun; Lee,  Soo Jung; Koh,  Dae Kyun

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Case Report

Journal of the Korean Society of Neonatology 1998;5(2):182-186.
Published online January 1, 2001.

A Case of 7q-Syndrome.

Kye Nam Yoon, Jin Hee Oh, Jong Hyun Kim, Soo Jung Lee, Dae Kyun Koh

Department of Pediatrics, Catholic University, College of Medicine, Seoul, Korea.

Abstract

Interstitial deletion of the long arm of the chromosome 7 is a well-defined syndrome which usually arises de novo. But there were few case reports in Korea. A male premature newborn infant that we have experienced had broad nasal bridge with bulbous nasal tip, large low-set ears, chorioretinal atrophy, hypoplasia of the aortic arch, micropenis, feeding difficuties and severe growth retardation, which are characteristic clinical features of the 7q deletion syndrome and confirmed to be a 7q-(q31qter) syndrome by chromosomal study.

Key Words: 7q- syndrome; Chromosomal anomaly

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