Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1

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 th...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Chatron, Nicolas, Thibault, Lucie, Lespinasse, James, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Edery, Patrick, Touraine, Renaud, des Portes, Vincent, Lesca, Gaetan, Sanlaville, Damien
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2017
Assuntos:
Novel Insights from Clinical Practice
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5701268/
https://ncbi.nlm.nih.gov/pubmed/29230163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000479455
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