A Case of Partial Trisomy 9q Derived from Paternal Chromosome.
- Author:
Ji Eun JUNG
1
;
Eun Jeong SONG
;
Hye Jin PARK
;
Kye Hyang LEE
;
Kyung Hoon LEE
;
Eun Jin CHOI
;
Jin Kyung KIM
;
Hai Lee CHUNG
;
Eok Su SEO
;
Woo Taek KIM
Author Information
1. Department of Pediatrics, School of Medicine, Catholic University of Daegu, Daegu, Korea. wootykim@cu.ac.kr
- Publication Type:Case Report
- Keywords:
Trisomy 9q;
dup(9)(q21.2q22.1);
Prematurity;
Congenital heart disease;
Hydronephrosis;
Scrotal hernia
- MeSH:
Animals;
Beak;
Chromosomes, Human, Pair 9;
Ductus Arteriosus, Patent;
Fingers;
Heart Septal Defects, Ventricular;
Humans;
Hydronephrosis;
Infant, Low Birth Weight;
Infant, Newborn;
Intellectual Disability;
Lip;
Microcephaly;
Nose;
Pyloric Stenosis, Hypertrophic;
Trisomy;
Vena Cava, Superior
- From:Journal of the Korean Society of Neonatology
2009;16(1):71-75
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
There are few cases of partial trisomy of 9q, known as partial 9q trisomy syndrome with low birth weight, microcephaly, hypotelorism, beaked nose, small lip, long finger, hypertrophic pyloric stenosis, ventricular septal defect, and mental retardation. We report partial trisomy of 9q derived from a paternal chromosome, which has different features of other syndromes, including prematurity, atrial and ventricular septal defect, patent ductus arteriosus, persistent left superior vena cava, congenital hydronephrosis, and scrotal hernia
