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

Wentzel C, Annerén G, Thuresson AC

Eur J Med Genet 57 (6) 259-263 [2014-03-12; online 2014-03-12]

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.

Affiliated researcher

PubMed 24631697

DOI 10.1016/j.ejmg.2014.02.016

Crossref 10.1016/j.ejmg.2014.02.016

pii: S1769-7212(14)00041-X