Cryptic chromosomal abnormalities identified in children with congenital heart disease

Ashleigh A. Richards, Lane Jaeckle Santos, Haley A. Nichols, Bill P. Crider, Frederick F. Elder, Natalie S. Hauser, Andrew R. Zinn, Vidu Garg

Research output: Contribution to journalArticle

69 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)358-363
Number of pages6
JournalPediatric Research
Volume64
Issue number4
DOIs
StatePublished - Oct 2008

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Chromosome Aberrations
Heart Diseases
Nervous System Malformations
Parturition
Comparative Genomic Hybridization
Congenital Heart Defects
Genetic Testing
Oligonucleotide Array Sequence Analysis
Cytogenetics
Population
Genome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Richards, A. A., Santos, L. J., Nichols, H. A., Crider, B. P., Elder, F. F., Hauser, N. S., ... Garg, V. (2008). Cryptic chromosomal abnormalities identified in children with congenital heart disease. Pediatric Research, 64(4), 358-363. https://doi.org/10.1203/PDR.0b013e31818095d0

Cryptic chromosomal abnormalities identified in children with congenital heart disease. / Richards, Ashleigh A.; Santos, Lane Jaeckle; Nichols, Haley A.; Crider, Bill P.; Elder, Frederick F.; Hauser, Natalie S.; Zinn, Andrew R.; Garg, Vidu.

In: Pediatric Research, Vol. 64, No. 4, 10.2008, p. 358-363.

Research output: Contribution to journalArticle

Richards, AA, Santos, LJ, Nichols, HA, Crider, BP, Elder, FF, Hauser, NS, Zinn, AR & Garg, V 2008, 'Cryptic chromosomal abnormalities identified in children with congenital heart disease', Pediatric Research, vol. 64, no. 4, pp. 358-363. https://doi.org/10.1203/PDR.0b013e31818095d0
Richards AA, Santos LJ, Nichols HA, Crider BP, Elder FF, Hauser NS et al. Cryptic chromosomal abnormalities identified in children with congenital heart disease. Pediatric Research. 2008 Oct;64(4):358-363. https://doi.org/10.1203/PDR.0b013e31818095d0
Richards, Ashleigh A. ; Santos, Lane Jaeckle ; Nichols, Haley A. ; Crider, Bill P. ; Elder, Frederick F. ; Hauser, Natalie S. ; Zinn, Andrew R. ; Garg, Vidu. / Cryptic chromosomal abnormalities identified in children with congenital heart disease. In: Pediatric Research. 2008 ; Vol. 64, No. 4. pp. 358-363.
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