Chromosome 1p36 deletion syndrome
Overview
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
- seizures
- 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 .
References
- 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.
- https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome
- http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletions%20FTNP.pdf
More Overview Content
Are there other names for chromosome 1p36 microdeletion syndrome?
How common is chromosome 1p36 microdeletion syndrome?
What is the usual abbreviation for chromosome 1p36 microdeletion syndrome?
What does "p" and "36" stand for in chromosome 1p36 microdeletion syndrome?
Are there other names for chromosome 1p36 microdeletion syndrome?
There are other names for chromosome 1p36 microdeletion syndrome. They are the following:
- Chromosome 1p36 deletion syndrome
- Del(1)(p36)
- Deletion 1p36
- Deletion 1pter
- Monosomy 1p36
- Monosomy 1p36 syndrome
- Monosomy 1pter
- Subtelomeric 1p36 deletion
How common is chromosome 1p36 microdeletion syndrome?
About 1 in 5,000 to 1 in 10,000 people are born with chromosome 1p36 microdeletion syndrome. There may be even more affected people. Some people with this disorder have probably not been diagnosed. Their doctors may not be familiar with the disorder. There are twice as many girls as boys with the disorder. A genetic counselor can help you understand the chance to have a child with this disorder.Genetic 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.
What is the usual abbreviation for chromosome 1p36 microdeletion syndrome?
The usual abbreviation for chromosome 1p36 microdeletion syndrome is Del(1)(p36). Del means deletion. The (1) shows which chromosome has a deletion. (p36) shows what part of the chromosome is deleted. A genetic counselor can explain more about chromosomes and how they are structured. Genetic 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.
What does "p" and "36" stand for in chromosome 1p36 microdeletion syndrome?
Every chromosome has two arms. These are the "p" arm and the "q" arm. The "p" arm is the short arm (p comes from the French word petit meaning small). The "q" arm is the long arm. The "p" and "q" arms are separated by a structure called the centromere. "36" is the specific location on the short arm of chromosome 1 where the missing piece (deletion) is located. A genetic counselor can explain more about chromosomes and how they are structured. Genetic 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.
