Title: Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies
Authors: Nowakowska, Beata
de Leeuw, Nicole
Ruivenkamp, Claudia Al
Sikkema-Raddatz, Birgit
Crolla, John A
Thoelen, Reinhilde
Koopmans, Marije
den Hollander, Nicolette
van Haeringen, Arie
van der Kevie-Kersemaekers, Anne-Marie
Pfundt, Rolph
Mieloo, Hanneke
van Essen, Ton
de Vries, Bert B A
Green, Andrew
Reardon, Willie
Fryns, Jean-Pierre
Vermeesch, Joris # ×
Issue Date: Feb-2012
Publisher: Karger
Series Title: European Journal of Human Genetics vol:20 issue:2 pages:166-170
Article number: 10.1038/ejhg.2011.157
Abstract: In several laboratories, genome-wide array analysis has been implemented as the first tier diagnostic test for the identification of copy number changes in patients with mental retardation and/or congenital anomalies. The identification of a pathogenic copy number variant (CNV) is not only important to make a proper diagnosis but also to enable the accurate estimation of the recurrence risk to family members. Upon the identification of a de novo interstitial loss or gain, the risk recurrence is considered very low. However, this risk is 50% if one of the parents is carrier of a balanced insertional translocation (IT). The apparently de novo imbalance in a patient is then the consequence of the unbalanced transmission of a derivative chromosome involved in an IT. To determine the frequency with which insertional balanced translocations would be the origin of submicroscopic imbalances, we investigated the potential presence of an IT in a consecutive series of 477 interstitial CNVs, in which the parental origin has been tested by FISH, among 14 293 patients with developmental abnormalities referred for array. We demonstrate that ITs underlie ∼2.1% of the apparently de novo, interstitial CNVs, indicating that submicroscopic ITs are at least sixfold more frequent than cytogenetically visible ITs. This risk estimate should be taken into account during counseling, and warrant parental and proband FISH testing wherever possible in patients with an apparently de novo, interstitial aberration.European Journal of Human Genetics advance online publication, 14 September 2011; doi:10.1038/ejhg.2011.157.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research
× corresponding author
# (joint) last author

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