15q26 overgrowth syndrome
Are people with 15q26 overgrowth syndrome affected differently?
People with Tetrasomy 15q26 overgrowth syndrome all tend to have some similar facial features and a significant degree of intellectual disability. However, other symptoms of the syndrome appear only in some people who have the condition and not others. These symptoms can include overgrowth, kidney problems, scoliosis, brain malformations and hearing loss.
The best type of doctor to figure out if someone has 15q26 overgrowth syndrome is a medical geneticist (a doctor specially trained to diagnose and treat genetic conditions). Medical geneticists can be found by asking for recommendations from your regular doctor, or by using the American College of Medical Genetics' Clinic Services Search Engine. In the "search by genetic service type(s)" heading, choose "General Genetic Services" from the "Clinic Service Type" drop down menu, and check the "General Genetics" box under "Clinic Services". If a child will be meeting with the geneticist, you may want to check the "Pediatric Genetics" box under "Clinic Services".
Xu H, Xiao B, Ji X, Hu Q, Chen Y, Qiu W. Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature. European Journal of Medical Genetics. 2014 Jul;57(7):329-33.
Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Ferederick B, Hirschhorn K, Warburton P, Shanske A. "Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?" Genetics in Medicine 2012. 14(9):811-818.
“Tetrasomy 15q26.” Online Mendelian Inheritance in Man. 2 Oct 2012. Web. 14 June 2016. http://www.omim.org/entry/614846