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2q23.1 microdeletion syndrome is a rare chromosome disorder. Symptoms may include seizures, moderate to severe learning problems, speech delays, behavior problems, trouble sleeping, and developmental delays (learn to crawl, sit or walk later than other babies). Children affected by 2q23.1 microdeletion syndrome may also have low muscle tone (hypotonia), slow weight gain, and may be shorter than family members.
2q23.1 deletion syndrome is caused by the loss of a small piece of DNA in one copy of chromosome 2, one of the 23 pairs of chromosomes in each cell in our bodies. Most cases of 2q23.1 deletion syndrome are de novo , which means the deletion was not passed down from either parent.
Diagnosis of 2q23.1 microdeletion syndrome may be suspected by symptoms but is confirmed by genetic testing. Treatment is based on the signs and symptoms of each person and may include seizure medication, speech therapy, behavior therapy, physical, and occupational therapy, and special education programs.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Cerebral hemorrhage |
| Enanthema |
| Shoulder flexion contracture |
| Stereotypy |
| Delayed speech and language development |
| Intellectual disability, severe |
| Seizures |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Macrodontia |
| Cryptorchidism |
| Hip dysplasia |
| Nasal polyposis |
| Pleural effusion |
| Hypoplasia of penis |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
2q23.1 microdeletion syndrome is caused by the loss of a small piece of one copy of chromosome 2, one of the 23 pairs of chromosomes in each cell in our body. Losing this small piece of chromosome 2 means that people with this microdeletion are missing one copy of the gene called MBD5. Most genes, including MBD5 , act as a blueprint or code that tells a cell how to make a specific protein. When a gene __ is missing, the protein it codes for is also missing. Since only one copy of the MBD5 gene is missing, some MBD5 protein is made, but not enough.
Medical researchers believe the MBD5 protein is a transcription regulator, which means it helps tell the cell which other genes should have their proteins made. These other proteins are thought to be important for the normal development and function of the brain.
Last updated on 05-01-20
The mutation associated with 2q23.1 microdeletion syndrome generally is not passed down from the parents, but instead occurs for the first time in the affected child ( de novo ). In many cases, therefore, there is no increased risk for other children of the couple to have 2q23.1 microdeletion syndrome.
However, in some cases, a child has inherited the microdeletion from a parent in an aautosomal dominant manner, but the parent does not have symptoms of 2q23.1 syndrome (unaffected) or is very mildly affected. This suggests the symptoms of 2q23.1 microdeletion syndrome may reduced penetrance. Therefore medical researchers recommend the chromosomes of both parents of child with 2q23.1 microdeletion syndrome are tested before talking to a genetic counselor about the risks of having another child with the microdeletion in future pregnancies.
Last updated on 05-01-20
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