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

作者：Wentzel Christian; Anneren Goran; Thuresson Ann Charlotte^*

来源：European Journal of Medical Genetics, 2014, 57(6): 259-263.

DOI：10.1016/j.ejmg.2014.02.016

• 6q Deletion
• 6q Duplication
• Developmental delay
• Intellectual disability

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.

• 出版日期2014-6