Chromosome 1p36 deletion syndrome
What is chromosome 1p36 microdeletion syndrome?
Chromosome 1p36 microdeletion syndrome is a disorder that causes many birth defects. It also causes intellectual delay. People with this disorder usually have many symptoms. These symptoms can 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
This disorder occurs when a piece of genetic information is missing. All of our genetic information is packaged into 23 structures called chromosomes. We have two of each chromosome. In this disorder, a piece of chromosome number 1 is missing. This is called a deletion. The size of the deletion is different in each person. Since each person with this condition has a different sized deletion, the symptoms can vary. Medical geneticists are a type of doctor who treat and diagnose genetic disorders. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/chromosome-1p36-deletion-syndrome/overview/7625 • DATE UPDATED: 2019-07-22
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.