Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder

Abstract Background Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers. Duplication of chromosome 15 and related disorders, characteriz...

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Hauptverfasser:	Yinghong Lu, Yi Liang, Sisi Ning, Guosheng Deng, Yuling Xie, Jujie Song, Na Zuo, Chunfeng Feng, Yunrong Qin
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2020-06-01
Schriftenreihe:	Molecular Cytogenetics
Schlagworte:	15q duplication related disorders Partial trisomy and tetrasomy of 15q11-q13 Small supernumerary marker chromosomes Copy number variation sequencing Developmental delay
Online-Zugang:	http://link.springer.com/article/10.1186/s13039-020-00489-z
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