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KMID : 1189120170140010038
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대한의학유전학회지
2017 Volume.14 No. 1 p.38 ~ p.42
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Prenatal diagnosis of 4p deletion syndrome: A case series report
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Kwak Dong-Wook
Ahn Hyun-Kyong
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Abstract
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The 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome, is a well-known genetic disorder caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements leads to a wide spectrum of clinical manifestations. Herein, we present our experience with eight cases of 4p deletion syndrome, ascertained prenatally between 1998 and 2016 at our hospital.
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KEYWORD
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Wolf-Hirschhorn syndrome, 4p deletion, Prenatal diagnosis
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