Chromosome 9p deletion
Alternate names[edit | edit source]
Deletion 9p; Monosomy 9p; 9p deletion; 9p monosomy; Partial monosomy 9p
Definition[edit | edit source]
Chromosome 9p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 9.
Cause[edit | edit source]
This condition occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 9.
Inheritance[edit | edit source]
- Chromosome testing of both parents can provide more information on whether the deletion was inherited.
- In about half of cases, the deletion occurs sporadically and neither parent has a chromosome abnormality.
- In the other half, one parent is found to have the same deletion (possibly with no features) or a balanced translocation (which usually does not cause any features).
Signs and symptoms[edit | edit source]
- The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved.
- Features may affect many parts of the body and may include developmental delay, low muscle tone (hypotonia), distinctive facial features, heart conditions, scoliosis, and/or genital abnormalities.
Diagnosis[edit | edit source]
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 | edit source]
Treatment for chromosome 9p deletion is based on the signs and symptoms in each person.
NIH genetic and rare disease info[edit source]
Chromosome 9p deletion is a rare disease.
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