A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another

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• 作者：Christian Wentzel ; Gö ; ran Anner&eacute ; n ; Ann-Charlotte Thuresson ; ^{ann-charlotte.thuresson@igp.uu.se" class="auth_mail}
• 关键词：6q Deletion ; 6q Duplication ; Developmental delay ; Intellectual disability
• 刊名：European Journal of Medical Genetics
• 出版年：May-June 2014
• 年：2014
• 卷：57
• 期：6
• 页码：259-263
• 全文大小：2217 K

文摘

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.