Chromosome 5q deletion
Alternate names[edit]
Deletion 5q; Monosomy 5q; 5q deletion; 5q monosomy; Partial monosomy 5q
Definition[edit]
Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5.
Cause[edit]
This condition occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5.
Inheritance[edit]
Most cases are not inherited, but people can pass the deletion on to their children.
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 5q 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 5q deletion is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
|
Rare diseases - Chromosome 5q deletion
|
| This article is a stub. You can help WikiMD by registering to expand it. |
