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Article

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.

European journal of human genetics : EJHG - 1 Mar 2018

Zepeda-Mendoza Cinthya J, Bardon Alexandra, Kammin Tammy, Harris David J, Cox Helen, Redin Claire, Ordulu Zehra, Talkowski Michael E, Morton Cynthia C

Abstract excerpt

Molecular characterization of balanced chromosomal abnormalities constitutes a powerful tool in understanding the pathogenic mechanisms of complex genetic disorders. Here we report a male with severe global developmental delay in the presence of a complex karyotype and normal microarray and exome studies. The subject, referred to as DGAP294, has two de novo apparently balanced translocations involving chromosomes...

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Identifiers

PMID: 29321672
DOI: 10.1038/s41431-017-0068-0
PMCID: PMC5838977

Genes

FOXG1
ADGRL2
PADI3
PADI4
PCDH15

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