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KMID : 0438520080150010089
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Journal of the Korean Society of Neonatology
2008 Volume.15 No. 1 p.89 ~ p.93
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A Case of Addition of Chromosome 12 associated with Multiple Anomaly and Developmental Impairment
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Jang Yong-Seok
Kim Woo-Taek
Choi Eun-Jin
Kim Jin-Kyung
Chung Hai-Lee
Park Hye-Jin
Shin Jin-Young
Lee Kye-Hyang
Seo Eok-Su
Jeong Ji-Eun
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Abstract
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Duplication of chromosome 12p has been rarely reported and are thought to be associated with congenital malformations and impaired development. We report a baby boy born with multiple dysmorphic features and congenital malformations. His karyotype was 46,XY, add(12)(p13.3). He has suffered from intrauterine growth restriction at birth. He showed abnormal cranio-facial findings such as microcephaly, hypognathia, clepft palate and low set ear. He presented with absence of uvula, micropenis and rocker bottom features of both feet, congenital heart disease, poor corticomedullary differentiation of kidney, and sensorineuronal hearing loss. We have been follow up him for seizure disorder and delayed development at out patient department.
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KEYWORD
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Chromosome 12, Addition, Multiple anomaly, Developmental impairment
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