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

10 Jun 2020

Abstract excerpt

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 hypotonia motor delays, autism spectrum disorder (ASD), intellectual disability, and epilepsy including infantile...

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PMID: 32536972
DOI: 10.1186/s13039-020-00489-z

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