Chromosome 12q deletion
Alternate names[edit | edit source]
Deletion 12q; Monosomy 12q; 12q deletion; 12q monosomy; Partial monosomy 12q
Definition[edit | edit source]
Chromosome 12q 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 12.
Cause[edit | edit source]
This condition occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 12.
Inheritance[edit | edit source]
Most cases are not inherited, but people can pass the deletion on to their children.
Signs and symptoms[edit | edit source]
- 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 12q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features.
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:
- Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions.
- FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a deletion of a specific region of 4q.
- Array CGH - a technology that detects deletions that are too small to be seen on karyotype.
Treatment[edit | edit source]
Treatment is based on the signs and symptoms present in each person.
NIH genetic and rare disease info[edit source]
Chromosome 12q deletion is a rare disease.
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