Copy number variants, aneuploidies, and human disease

In the perinatal setting, chromosome imbalances cause a range of clinically significant disorders and increase the risk for other particular phenotypes. As technologies have improved to detect increasingly smaller deletions and duplications, collectively referred to as copy number variants (CNVs), c...

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Bibliographic Details
Published inClinics in perinatology Vol. 42; no. 2; p. 227
Main Authors Martin, Christa Lese, Kirkpatrick, Brianne E, Ledbetter, David H
Format Journal Article
LanguageEnglish
Published United States 01.06.2015
Subjects
Aneuploidy
Congenital Abnormalities - diagnosis
Congenital Abnormalities - genetics
DNA Copy Number Variations
Genetic Testing - methods
Genome, Human - genetics
Humans
Infant, Newborn
Prenatal
Neonatal
Copy number variant
Aneuploidy
CNV
Chromosomal microarray
Genomic databases
Noninvasive prenatal testing
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Summary:In the perinatal setting, chromosome imbalances cause a range of clinically significant disorders and increase the risk for other particular phenotypes. As technologies have improved to detect increasingly smaller deletions and duplications, collectively referred to as copy number variants (CNVs), clinicians are learning the significant role that these types of genomic variants play in human disease and their high frequency in ∼ 1% of all pregnancies. This article highlights key aspects of CNV detection and interpretation used during the course of clinical care in the prenatal and neonatal periods. Early diagnosis and accurate interpretation are important for targeted clinical management.
ISSN:1557-9840
DOI:10.1016/j.clp.2015.03.001