Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2008-10

AUTHORS

ASHLEIGH A. RICHARDS, LANE JAECKLE SANTOS, HALEY A. NICHOLS, BILL P. CRIDER, FREDERICK F. ELDER, NATALIE S. HAUSER, ANDREW R. ZINN, VIDU GARG

ABSTRACT

Congenital heart disease (CHD) is the most common type of birth defect, and the etiology of most cases is unknown. CHD often occurs in association with other birth malformations, and only in a minority are disease-causing chromosomal abnormalities identified. We hypothesized that children with CHD and additional birth malformations have cryptic chromosomal abnormalities that might be uncovered using recently developed DNA microarray-based methodologies. We recruited 20 children with diverse forms of CHD and additional birth defects who had no chromosomal abnormality identified by conventional cytogenetic testing. Using whole-genome array comparative genomic hybridization, we screened this population, along with a matched control population with isolated heart defects, for chromosomal copy number variations. We discovered disease-causing cryptic chromosomal abnormalities in five children with CHD and additional birth defects versus none with isolated CHD. The chromosomal abnormalities included three unbalanced translocations, one interstitial duplication, and one interstitial deletion. The genetic abnormalities were predominantly identified in children with CHD and a neurologic abnormality. Our results suggest that a significant percentage of children with CHD and neurologic abnormalities harbor subtle chromosomal abnormalities. We propose that children who meet these two criteria should receive more extensive genetic testing to detect potential cryptic chromosomal abnormalities. More... »

PAGES

358-363

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/pdr.0b013e31818095d0

DOI

http://dx.doi.org/10.1203/pdr.0b013e31818095d0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1025649069

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18535492


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