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Chromosome 15q11.2q13.3 Aneusomies and Autism Spectrum Disorders 

Chromosome 15q11.2q13.3 Aneusomies and Autism Spectrum Disorders
Chapter:
Chromosome 15q11.2q13.3 Aneusomies and Autism Spectrum Disorders
Author(s):

David J. Wu

and Carolyn Schanen

DOI:
10.1093/med/9780199744312.003.0017
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date: 24 November 2020

Chapter 17 discusses Chromosome 15, which is a small, satellited acrocentric chromosome that shows remarkable structural complexity in the proximal long arm, and which leads to a host of rearrangements that have been implicated in human genetic disorders. Interpretation of potential genotype–phenotype relationships for the unique and overlapping deletions and duplications that have been identified must consider key structural and functional elements that impact the complement of genes that are ultimately misexpressed.

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