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Article

De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders.

Cold Spring Harbor molecular case studies - 1 Jun 2020

Sjaarda Calvin P, Kaiser Beatrice, McNaughton Amy J M, Hudson Melissa L, Harris-Lowe Liam, Lou Kyle, Guerin Andrea, Ayub Muhammad, Liu Xudong

Abstract excerpt

Pleiotropy and variable expressivity have been cited to explain the seemingly distinct neurodevelopmental disorders due to a common genetic etiology within the same family. Here we present a family with a de novo 1-Mb duplication involving 18 genes on Chromosome 19. Within the family there are multiple cases of neurodevelopmental disorders including autism spectrum disorder, attention deficit/hyperactivity...

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Chromosomes, Human, Pair 19
Comparative Genomic Hybridization
Facies
Gene Dosage
Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genes, Essential

Neurodevelopmental Disorders

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Identifiers

PMID: 32321736
DOI: 10.1101/mcs.a004721
PMCID: PMC7304355

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