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A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics.
2014 (English)In: European Journal of Medical Genetics, ISSN 1769-7212, E-ISSN 1878-0849, Vol. 57, no 6, 259-263 p.Article in journal (Refereed) Published
Abstract [en]

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. (C) 2014 Elsevier Masson SAS. All rights reserved.

Place, publisher, year, edition, pages
2014. Vol. 57, no 6, 259-263 p.
Keyword [en]
6q Deletion, 6q Duplication, Developmental delay, Intellectual disability
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-227740DOI: 10.1016/j.ejmg.2014.02.016ISI: 000336402300003OAI: oai:DiVA.org:uu-227740DiVA: diva2:730886
Available from: 2014-06-30 Created: 2014-06-30 Last updated: 2017-12-05Bibliographically approved

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Wentzel, ChristianAnnerén, GöranThuresson, Ann-Charlotte

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