| Literature DB >> 29230163 |
Nicolas Chatron1,2,3, Lucie Thibault1, James Lespinasse4, Audrey Labalme1, Caroline Schluth-Bolard1,2,3, Marianne Till1, Patrick Edery1,2,3, Renaud Touraine5, Vincent des Portes3,6,7, Gaetan Lesca1,2,3, Damien Sanlaville1,2,3.
Abstract
We report a 3-generation family in which 2 Xp copy number variations (CNVs) co-segregate. The proband presented with syndromic intellectual disability. The CNV had been revealed by conventional karyotyping, identifying a large Xp22 duplication causing an Xp functional disomy. Family studies found that this duplication was inherited from the proband's mother and was also present in one of his sisters. This sister had conventional karyotyping performed during pregnancy with a normal result. Postnatally, her child, the proband's nephew, presented with autism spectrum disorders. aCGH revealed a 339-kb IL1RAPL1 duplication. Overall, the proband, his mother, and one of his sisters all harboured both CNVs, while his other sister and the 2 sons of each sister only carried the IL1RAPL1 intragenic duplication. As seen in this family, we emphasise the importance of small CNV detection, the pathogenicity of IL1RAPL1 exonic duplications in male carriers, and the difficulties for genetic counselling with the risk of double diagnosis in a single patient.Entities:
Keywords: Genetic counselling; IL1RAPL1 duplication; Intellectual disability; Meiotic recombination; X chromosome
Year: 2017 PMID： 29230163 PMCID： PMC5701268 DOI： 10.1159/000479455
Source DB: PubMed Journal: Mol Syndromol ISSN： 1661-8769