What happens if you have an extra 22 chromosome?
Typically, survived children with full trisomy 22 often have delayed growth of upper jaw, cheekbones, and eye sockets (midface hypoplasia) with flat/broad nasal bridge, ear malformation with pits or tags, incomplete closure of the roof of the mouth (cleft palate), increased distance between organs or bodily parts.
What is chromosome 22 abnormality?
DiGeorge syndrome, more accurately known by a broader term — 22q11. 2 deletion syndrome — is a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems.
What does an extra chromosome 22 mean?
Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants.
What is the name of the missing band on chromosome 22?
This condition is identified when a band in the q11.2 section of the arm of chromosome 22 is missing or deleted. This condition has several different names: 22q11.2 deletion syndrome, Velocardiofacial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome.
What causes an extra copy of chromosome 22?
22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes.
What happens to the q arm of chromosome 22?
22q13 deletion syndrome (Phelan–McDermid syndrome) is a condition caused by the deletion of the tip of the q arm on chromosome 22. Most individuals with this disorder experience cognitive delays; low muscle tone; and sleeping, eating, and behavioural issues.
What kind of heart defects does mosaic trisomy 22 cause?
Patients with mosaic trisomy 22 often have congenital heart defects. Atrial septal defects and ventricular septal defects are the most common cardiac malformations for these patients.