Ring chromosome 2

Alternate names

Chromosome 2 ring; Ring 2; R2

Definition

Ring chromosome 2 is a very rare chromosome abnormality in which the ends of chromosome 2 join together to form a ring shape.

File:R(20) - ring chromosome 20.PNG

File:Human karyotype from bladder carcinoma, including ring chromosome.jpg

Cause

This chromosomal abnormality is caused when ends of chromosome 2 join together to form a ring shape.

Inheritance

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

• 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

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

Treatment for ring chromosome 2 depends on the signs and symptoms present in each person.

NIH genetic and rare disease info

• NIH info on Ring chromosome 2

Ring chromosome 2 is a rare disease.