Ring chromosome 15
is a chromosome abnormality
that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability
; low muscle tone (hypotonia
); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects
, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots
. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome
is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion
) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo
) errors very early in embryonic development.
In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation
Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.
Last updated: 5/4/2016