Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

ConclusionIn the present study, we identified rare CNVs contributing pathogenic or potentially pathogenic alleles in five patients with syndromic intestinal malrotation, suggesting that CNV screening is indicated in intestinal malrotation with associated malformations or neurological involvements. In addition, we identified intestinal malrotation in two known syndromes (Cornelia de Lange type 5 and 18q terminal deletion syndrome) that has not previously been associated with gastrointestinal malformations.

Source: Molecular Genetics & Genomic Medicine - January 10, 2019 Category: Genetics & Stem Cells Authors: Karin Salehi Karlsl ätt, Maria Pettersson, Nina Jäntti, Przemyslaw Szafranski, Tomas Wester, Britt Husberg, Ulla Ullberg, Pawel Stankiewicz, Ann Nordgren, Johanna Lundin, Anna Lindstrand, Agneta Nordenskjöld Tags: ORIGINAL ARTICLE Source Type: research