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

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, characterized by hy...

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Библиографические подробности
Опубликовано в: :Mol Cytogenet
Главные авторы: Lu, Yinghong, Liang, Yi, Ning, Sisi, Deng, Guosheng, Xie, Yuling, Song, Jujie, Zuo, Na, Feng, Chunfeng, Qin, Yunrong
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2020
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7288499/
https://ncbi.nlm.nih.gov/pubmed/32536972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-020-00489-z
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