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

Sjaarda, Calvin P

De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders. [electronic resource] - Cold Spring Harbor molecular case studies 06 2020

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

2373-2873

10.1101/mcs.a004721 doi


Chromosomes, Human, Pair 19
Comparative Genomic Hybridization
DNA Copy Number Variations
Facies
Family
Female
Gene Dosage
Gene Duplication
Gene Expression Profiling
Genes, Essential
Genetic Association Studies--methods
Genetic Predisposition to Disease
Humans
Male
Neurodevelopmental Disorders--diagnosis
Pedigree
Phenotype
RNA, Messenger
Siblings