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Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.

Haiyu LiJuan DuWen LiDehua ChengWenbin HeDuo YiBo XiongShimin YuanChaofeng TuLanlan MengAixiang LuoGe LinGuangxiu LuYue-Qiu Tan
Published in: Molecular cytogenetics (2018)
We detected two rare mosaic idic(15) karyotypes that were associated with congenital abnormalities, including a rare mosaic octosomy of 15q11-q13. Our cases further validate the notion that the phenotypic severity is correlated with the level of mosaicism and the dosage effect of related genes in the proximal 15q.
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