title: A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another.
abstract: Here we report a case of two siblings with reciprocal aberrations, one presenting with a deletion and the other carrying two novel duplications at 6q13q16.1. Interestingly, both alterations were inherited from a healthy mother carrying a non-reciprocal translocation of 6q13q16 to 15q11. Deletions at 6q13q16.1 have been previously described; however this is the first characterisation of a 6q13q16.1 duplication. In this report we provide a comprehensive molecular and phenotypical characterisation of the affected siblings and discuss the profiles of previously identified patients carrying 6q deletions.
authors.affiliation: Department of Immunology, Genetics and Pathology, Rudbeck and Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden.
authors.forename: Christian
authors.initials: C
authors.lastname: Wentzel
authors.affiliation: Department of Immunology, Genetics and Pathology, Rudbeck and Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden.
authors.forename: Göran
authors.initials: G
authors.lastname: Annerén
authors.affiliation: Department of Immunology, Genetics and Pathology, Rudbeck and Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden. Electronic address: ann-charlotte.thuresson@igp.uu.se.
authors.forename: Ann-Charlotte
authors.initials: AC
authors.lastname: Thuresson
mesh_terms: D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D058674:Chromosome Duplication; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D046228:Microarray Analysis / Q000379:methods; D009035:Mothers; D010641:Phenotype; D035781:Siblings; D014178:Translocation, Genetic
keywords: 6q Deletion; 6q Duplication; Developmental delay; Intellectual disability