Chromosome 9q deletion
Alternate names[edit]
Deletion 9q; Monosomy 9q; 9q deletion; 9q monosomy; Partial monosomy 9q
Definition[edit]
Chromosome 9q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 9.
Cause[edit]
This condition occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 9.
Inheritance[edit]
- Chromosome testing of both parents can provide more information on whether or not the deletion was inherited.
- In most cases, parents do not have any chromosomal anomaly.
- However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material.
- The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion.
Signs and symptoms[edit]
- The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.
- Features that often occur in people with chromosome 9q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features.
Diagnosis[edit]
Chromosome disorders may be suspected in people who have developmental delays, intellectual disabilities and/or physical abnormalities.
Several types of genetic tests can identify chromosome disorders:
- Karyotyping
- Microarray (also called array CGH)
- Fluorescence in situ hybridization (FISH)
Treatment[edit]
Treatment is based on the signs and symptoms present in each person.
NIH genetic and rare disease info[edit]
Chromosome 9q deletion is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
|
Rare diseases - Chromosome 9q deletion
|
| This article is a stub. You can help WikiMD by registering to expand it. |
