A microdeletion on chromosome 22q11 has been found in
most cases of DiGeorge syndrome and velocardiofacial
syndrome, and is also associated with certain types of isolated
congenital heart disease. With an incidence of 8 per 1000 live
births, congenital heart disease is one of the most common
birth defects. The aetiology is usually unknown and it is
therefore important to identify cases caused by 22q11 deletion.
Isolated cardiac defects due to microdeletions of chromosome
22q11 often include outflow tract abnormalities. Deletions have
been observed in both sporadic and familial cases and are
responsible for about 30% of non-syndromic conotruncal
malformations including interrupted aortic arch, truncus
arteriosus and tetralogy of Fallot.
Subscribe to:
Post Comments (Atom)
No comments:
Post a Comment