Ring chromosome 2
Alternate names[edit | edit source]
Chromosome 2 ring; Ring 2; R2
Definition[edit | edit source]
Ring chromosome 2 is a very rare chromosome abnormality in which the ends of chromosome 2 join together to form a ring shape.
Cause[edit | edit source]
This chromosomal abnormality is caused when ends of chromosome 2 join together to form a ring shape.
Inheritance[edit | edit source]
Ring chromosome 2 typically is not inherited and occurs sporadically, during the formation of egg or sperm cells or shortly after the egg and sperm join together.
Signs and symptoms[edit | edit source]
- The severity and symptoms associated with ring chromosome 2 vary from person to person.
- Slow growth, short stature and a small head size are common features, but people with ring chromosome 2 may otherwise be generally healthy with no major birth defects.
- Signs and symptoms present in some people may include failure to thrive, developmental delay, low muscle tone (hypotonia), distinctive facial features, skeletal abnormalities, and/or other birth defects involving the heart, genitals, or other parts of the body.
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 ring chromosome 2 depends on the signs and symptoms present in each person.
NIH genetic and rare disease info[edit source]
Ring chromosome 2 is a rare disease.
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