Chromosome 1p36 deletion syndrome
What are the main symptoms of chromosome 1p36 microdeletion syndrome?
Chromosome are structures in our cells that contain our genetic information. In chromosome 1p36 microdeletion syndrome a piece of chromosome 1 is missing or deleted. The symptoms of this disorder depend on which genes are missing. The size of the deletion can vary. Some people have larger deletions than others. Some of the symptoms include:
- developmental delay
- behavior problems
- growth problems
- brain abnormalities
- weak muscles (hypotonia)
- unusual facial features
- vision and hearing problems
- skeletal defects
- heart defects
- kidney defects
- defects of the penis or vagina
- digestion problems
Talk to a genetic counselor to learn more about the symptoms of this disorder. TGenetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.
Battaglia A. 1p36 Deletion Syndrome. 2008 Feb 1 [Updated 2013 Jun 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.