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".
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/15q26-overgrowth-syndrome/symptoms/6930 • DATE UPDATED: 2016-06-14
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“Tetrasomy 15q26.” Online Mendelian Inheritance in Man. 2 Oct 2012. Web. 14 June 2016. http://www.omim.org/entry/614846