J Korean Soc Neonatol.  1998 Nov;5(2):182-186.

A Case of 7q-Syndrome

• Yoon KN
• Oh JH
• Kim JH
• Lee SJ
• Koh DK

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.

Keyword

7q- syndrome; Chromosomal anomaly

MeSH Terms

Aorta, Thoracic
Arm
Atrophy
Chromosomes, Human, Pair 7
Ear
Humans
Infant, Newborn
Korea
Male