Chromosome 6p deletion
Alternate names[edit]
Deletion 6p; Monosomy 6p; 6p deletion; 6p monosomy; Partial monosomy 6p
Definition[edit]
Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6.
Cause[edit]
This condition occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6.
Inheritance[edit]
Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation.
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 6p 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 6p deletion is a rare disease.
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Rare diseases - Chromosome 6p deletion
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