A Case of 7q-Syndrome.

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

Search: J Korean Soc Neonatol. Search

CLOSE

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

TOOLS

PDF Links
Full text via DOI
Download Citation

Share :

METRICS

2,235 View
17 Download

Related articles in NM

A Case of Ohtahara Syndrome1996 May;3(1)

A Case of 18p- Syndrome with Atrial Septal defect1995 November;2(2)

An Autopsy Case of 13 Ring Chromosome Syndrome1995 November;2(2)

A Case of Citrullinemia1995 November;2(2)

A Case of Pseudohypoaldosteronism1995 May;2(1)

Editorial Office: 34, Sajik-ro 8–gil(King’s Gargen 3 Block 1207), Jongno-gu, Seoul 03174, Republic of Korea
Tel: +82-2-730-1993 Fax: +82-2-730-1994 E-mail: neonate2002@naver.com