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KMID : 1101620160270040255
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Perinatology
2016 Volume.27 No. 4 p.255 ~ p.259
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A Case of Chromosome 7q34 Deletion in an Infant with Hypothalamic Hamartoma and Biliary Atresia
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Lee Jin-Kyoung
Chung Sung-Hoon
Choi Yong-Sung
Bae Chong-Woo
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Abstract
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The chromosome 7q terminal deletion is a rare chromosomal disorder. It was first described in 1968 and has shown to have diverse clinical phenotypes. In this report, the phenotypes include growth retardation, bulbous nasal tip, microcephaly, abnormal ears, and hearing loss. In addition, we report on a new case of 7q34 deletion presenting with hypothalamic hamartoma and biliary atresia with a review of associated literatures.
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KEYWORD
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Chromosome 7q34 deletion, Hypothalamic hamartoma, Biliary atresia
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