Article

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

2020-05-15

Abstract excerpt

<h4>Background: </h4> 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 infan...

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Literature Corpus work: 2991654b-6490-5efe-b53c-19e29f19027a
DOI: 10.21203/rs.2.23705/v2

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