Is there a treatment(s) for trisomy 1q?
Unfortunately, trisomy 1q (1q duplication) cannot be cured. We are not able to remove the extra amount of DNA that is the cause of the condition. Instead, newborns and children are treated for the symptoms they have, if possible. Sometimes, the condition is too severe and the newborn passes shortly after birth or is miscarried during pregnancy.
However, if the full part of the q arm of chromosome 1 is not duplicated, and only smaller amounts are, then the individual will be less severely affected. They may be born with a cleft palate or small lower jaw that may need to be surgically repaired. Some infants with trisomy 1q are born with heart defects; depending on the severity, they may require surgical repair. It will also be important to monitor growth and ensure children are enrolled in early intervention programs to help with any developmental delays.
- "Duplication 1q" Unique Publication. 2005. http://www.rarechromo.org/information/Chromosome%20%201/1q%20duplications%20%20FTNW.pdf