A Case of Chromosome 16 Disorder with Unilateral Multicystic Displastic Kidney. |
Ji Eun Lim, So Young Kim |
Department of Pediatrics, College of Medicine, Catholic University, Seoul, Korea. sykimped@catholic.ac.kr |
일측 다낭성 신 이형성증이 동반된 16번 염색체 이상 1례 |
, |
|
|
|
Abstract |
The survival rate of neonates with aberrations of chromosome 16 is very low because they are incompatable with life. We encountered a case of a chromosome 16 aberration in a female neonate who showed multiple congenital malformations suggestive of chromosomal anomaly including round face, hypertelorism, low-set ears, cleft palate, multiple heart anomalies, bilateral hearing loss, right multicystic dysplastic kidey, proximally located thumbs, planovalgus, and muscle hypotonia. We report the case with a brief review of the literature. |
Key Words:
Chromosome 16 aberration; Multicystic dysplastic kidney; Multiple congenital anomaly |
|