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KMID : 0438520050120020217
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Journal of the Korean Society of Neonatology
2005 Volume.12 No. 2 p.217 ~ p.221
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Chromosome 7q Deletion Syndrome [46, XX, del(7)(q34)] with Hydronephrosis
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Sung Nam-Ju
Kim Me-Jin
Kim Young-Ho
Jung Ji-Ah
Yang Seung
Hwang Il-Tae
Lee Hae-Ran
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Abstract
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Chromosome 7q deletion, relatively rare syndrome, was first described by de Grouchy in 1969. The most frequent clinical manifestations of a “7q deletion syndrome” include; low birth weight, postnatal growth retardation, mental retardation, developmental delay, microcephaly, congenital heart disease, hypotonia, bulbous nasal tip and abnormal ears. We report a case of 7q deletion syndrome with microcephaly, upslanting palpabral fissure, micrognathia, bulbous nasal tip, developmental delay and hydronephrosis.
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KEYWORD
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Chromosome 7q deletion syndrome, Hydronephrosis
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