Premium
Chromosome copy number variants in fetuses with syndromic malformations
Author(s) -
Wang Huilin,
Chau Matthew Hoi Kin,
Cao Ye,
Kwok Ka Yin,
Choy Kwong Wai
Publication year - 2017
Publication title -
birth defects research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.845
H-Index - 17
ISSN - 2472-1727
DOI - 10.1002/bdr2.1054
Subject(s) - copy number variation , genetics , chromosome , congenital malformations , clinical significance , biology , genetic testing , comparative genomic hybridization , medicine , genome , gene , pregnancy , pathology
Chromosome copy number variants (CNVs; gains and losses of DNA sequences >1 kb) are wide‐spread throughout the genome of healthy individuals. Laboratory studies show that a subset of CNVs are pathogenic, and not only can be responsible for the pathogenesis of major birth defects and cancer, but are also associated with neurodevelopmental disorders at birth. The characteristics of the pathogenic microdeletions and microduplications are important for both clinical implications and genetic counselling regarding test selection for prenatal screening and diagnosis. Unfortunately, our knowledge of the phenotypic effects of most CNV is still minimal, leading to the classification of many CNVs as “genomic imbalances of unknown clinical significance”. Microdeletions and microduplications can occur in all pregnancies and the spectrum of pathogenic CNVs in fetuses with syndromic malformations is not well studied. This review summarizes our current understanding of CNVs, the common detection methods, and the characteristics of pathogenic CNVs identified in fetuses with syndromic malformations. Birth Defects Research 109:725–733, 2017. © 2017 Wiley Periodicals, Inc.