Chromosome 15q11.2 – q13.1 Duplication Syndrome (OMIM #608636) “Dup15q syndrome” is caused by the presence of at least one extra copy of the Prader-Willi/Angelman critical region (PWACR) within chromosome 15q11.2-q13.1. There are many other genetically derived names that are commonly used in the diagnosis for dup15q syndrome, including; 15q11.2-q13.1 duplication syndrome, Inverted duplication 15 (inv dup15), Partial trisomy 15, Isodicentric chromosome 15 syndrome [Idic(15)], Supernumerary marker chromosome 15 (SMC15), Partial tetrasomy 15q, etc. All of these names describe the genetics of “dup15q syndrome”.
As with most rare genetic disorders, in the absence of gene therapies, clinical treatment, and support for all the genetic variations of dup15q syndrome is based on the presenting symptoms not based upon the genetic mutation. The researchers and clinicians support the dup15q community. In rare genetic disorders like dup15q syndrome, patient families find it invaluable to find other families who are going through the same thing that they are going through, by using the common syndrome name this enables them to find their community and to encourage their participation in research dedicated to improving the characterization of the dup15q syndrome and any clinical differences in the genetic subtypes. Dup15q syndrome is the name recognized by the patient family community.
While a genetic diagnosis may not directly change medical care, it often has significant clinical and personal utility in terms of anticipatory guidance, genetic counseling, eligibility for relevant research studies, and access to patient support organizations.”