A Case of 7q-Syndrome.
- Author:
Kye Nam YOON
1
;
Jin Hee OH
;
Jong Hyun KIM
;
Soo Jung LEE
;
Dae Kyun KOH
Author Information
- Publication Type:Case Report
- Keywords: 7q- syndrome; Chromosomal anomaly
- MeSH: Aorta, Thoracic; Arm; Atrophy; Chromosomes, Human, Pair 7; Ear; Humans; Infant, Newborn; Korea; Male
- From:Journal of the Korean Society of Neonatology 1998;5(2):182-186
- CountryRepublic of Korea
- Language:Korean
- 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.
