All issues > Volume 46(6); 2003

Case Report

J Korean Pediatr Soc. 2003;46(6):597-601. Published online June 15, 2003.

A Case of Trisomy 9 Mosaicism

Young Ok YO Kim¹, Chun Hak CH Park², Ic Sun IS Choi¹, Hyun Jung HJ Kim¹, Chang Yee CY Cho¹, Young Youn YY Choi¹

¹Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea
²Department of Pediatrics, Seonam University Medical School, Gwangju, Korea

Correspondence Young Youn YY Choi ,Email: yychoi@chonnam.ac.kr

Abstract

Trisomy 9 mosaic syndrome is a rarely reported chromosomal abnormality with high incidence of intrauterine growth retardation and perinatal death. Even a baby lives, he has severe mental retardation and significant malformations. The incidence and severity of malformations and mental retardation correlate with the percentage of trisomic cells in the different tissues. The characteristic craniofacial abnormalitis are narrow bifrontal diameter, up-slanted and short palpebral fissures, a prominent nasal bridge with a short root, a prominent lip covering a receding lower lip, low-set, posteriorly rotated, and misshapen ears. Ventricular septal defect is a main cardiac abnormality. Bony hypoplasia and dislocated hips have been frequently reported. Central nervous system, hepatobiliary, gastrointestinal and genitourinary abnormalities also had been reported. The authors report a baby who had characteristic abnormalities of trisomy 9 mosaicism with narrow temples, up-slanted palpebral fissures, a bulbous nose, thin and protruding upper lip, low set and malformed ears, hyperextended wrist and overlapping fingers. Cytogenetic analysis performed to confirm the chromosomal abnormality revealed trisomy 9, low level mosaic type.

Keywords :Trisomy 9 mosaicism, Craniofacial anomaly