Unbalanced de novo translocation in mother resulting in one child with a 6q13-q16 deletion and one child with a 6q13-q16 duplication
(English)Manuscript (preprint) (Other academic)
Here we report on two sisters with reciprocal CNVs at 6q13-q16.1. Both the deletion and the duplication were inherited from the healthy mother carrying an insertion of 6q13-q16 to 15q11. The deleted region in one of the sisters has previously been described. However, to our knowledge this is the first report of a duplication at the region 6q13q16. In the report we submit a detailed phenotypical description of both patients as well as candidate genes for some of the various symptoms that the patients presented.
Research subject Medical Genetics
IdentifiersURN: urn:nbn:se:uu:diva-197354OAI: oai:DiVA.org:uu-197354DiVA: diva2:612749