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A case of de novo duplication of 15q24-q26.3

Eun Young Kim, Yu Kyong Kim, Mi Kyoung Kim, Ji Mi Jung, Ga Won Jeon, Hye Ran Kim, Jong Beom Sin

Clin Exp Pediatr. 2011;54(6):267-271. Published online June 30, 2011

Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical...

DOI: https://doi.org/10.3345/kjp.2011.54.6.267

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