Journal of the Korean Pediatric Society 2003;46(6):597-601.
Published online June 15, 2003.
A Case of Trisomy 9 Mosaicism
Young Ok Kim1, Chun Hak Park2, Ic Sun Choi1, Hyun Jung Kim1, Chang Yee Cho1, Young Youn Choi1
1Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea
2Department of Pediatrics, Seonam University Medical School, Gwangju, Korea
Trisomy 9 Mosaicism 1례
김영옥1, 박천학2, 최익선1, 김현정1, 조창이1, 최영륜1
1전남대학교 의과대학 소아과학교실
2서남대학교 의과대학 소아과학교실
Correspondence: 
Young Youn 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.
Key Words: Trisomy 9 mosaicism, Craniofacial anomaly


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