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KMID : 0438520070140020243
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Journal of the Korean Society of Neonatology
2007 Volume.14 No. 2 p.243 ~ p.246
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A Case of Chromosome 16 Disorder with Unilateral Multicystic Displastic Kidney
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Lim Ji-Eun
Kim So-Young
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Abstract
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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.
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KEYWORD
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Chromosome 16 aberration, Multicystic dysplastic kidney, Multiple congenital anomaly
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