Microduplications 11.2 and 13.3

15q13.3 microduplication syndrome

15q13.3 microduplication syndrome was first described in 2009. It includes small duplications located on chromosome 15q in the region 13.2 -13.3. See the area on the diagram labeled "e". Although this chromosomal abnormality occurs very close to the PWS/AS region (15q11.2-13.1) that is affected in dup15q syndrome and labeled as "Core" on the diagram, the symptoms can vary significantly from dup15q syndrome.  There is a wide range of symptoms in individuals with this microduplication, even among members of the same family who have the same genetic diagnosis. More research is needed in this area.

View the National Institute of Health webpage

15q11.2 Microduplications

​We are aware of several families who have received a diagnosis of a small duplication of chromosome 15q in the area 11.1-11.2. This area is labeled as "E" on the diagram. Currently, there is not much information available on this abnormality, but it appears that the symptoms are also different from dup15q syndrome, despite the proximity of the duplications. More research is needed in this area.