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KMID : 0381120060280040421
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Genes and Genomics
2006 Volume.28 No. 4 p.421 ~ p.424
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A case of Duplication 9p Syndrome with a Small Supernumerary Marker Derived from Chromosome 9
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Park In-Yang
Kim Yong-Goo
Lim Ji-Hyang
Kim Myung-Shin
Han Kyung-Ja
Sung In-Kyung
Shin Jong-Chul
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Abstract
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Trisomy 9p is a well described entity including growth and mental retardation and facial dysmorphism. Here we report a case of de novo duplication of 9p, a syndrome concurrent with a small supernumerary marker chromosome (sSMC). A male infant was ascertained at 1 month because of feeding problem and abnormal facial and hand appearance. Using fluorescence in situ hybridization, we proved that an inverted duplication of 9p13 → 9p24 with subtelomeric deletion developed and sSMC consisted of 9p11 - 9q11 DNA material.
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KEYWORD
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trisomy 9p, small supernumerary marker chromosome, fluorescence in situ hybridization
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