Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.

Solveig HeideSandra Chantot-BastaraudBoris KerenMadeleine D HarbisonSalah AzziSylvie RossignolCaroline MichotMarilyn Lackmy-Port LysBénédicte DemeerClaudine HeinrichsRon S NewfieldPierre SardaLionel Van MaldergemVéronique TrifardEloise GiabicaniJean-Pierre SiffroiYves Le BoucIrène NetchineFrédéric Brioude

Published in: Journal of medical genetics (2017)

The phenotype associated with 11p15 duplications depends on the size, genetic content, parental inheritance and imprinting status. Identification of these rare duplications is crucial for genetic counselling.

Keyphrases

copy number
mitochondrial dna
genome wide
smoking cessation
gene expression
hiv testing
high resolution
solid phase extraction
men who have sex with men
hiv infected