Chromosome 22q11 deletion in @entity1 with XXXX : frequency and associated @entity854 .

@entity1 @entity8521 @entity1757 @entity509 @entity854 @entity5036 @entity358 @entity299 @entity893
BACKGROUND: A @entity1757 ( @entity1757 ) is the most common form of @entity299 and is one of the most common @entity854 in individuals with chromosome 22q11 deletion syndrome. However, the frequency of a chromosome 22q11 deletion in @entity1 with a @entity1757 is not known. In addition, among @entity1 with a @entity1757 , it is not clear whether particular types of @entity1757 or associated cardiovascular phenotypic features are associated with a chromosome 22q11 deletion. METHODS: We prospectively enrolled 125 @entity1 with a conoventricular (n = 100), posterior @entity893 (n = 14), or @entity509 (n = 11) @entity1757 who were admitted to @entity1 's Hospital of Philadelphia between November 1991 and December 2001. @entity1 were studied for a chromosome 22q11 deletion by using fluorescence in situ hybridization. RESULTS: A chromosome 22q11 deletion was detected in 12 (10%) of the 125 @entity1 . Anatomic features that were significantly associated with a chromosome 22q11 deletion included abnormal @entity8521 sidedness, an abnormal @entity8521 @entity5036 pattern, a cervical @entity8521 , and @entity358 . There was no correlation between the type of @entity1757 and chromosome 22q11 deletion. Of 20 @entity1 with an abnormal @entity8521 and/or @entity358 , 45% had a chromosome 22q11 deletion compared with only 3% of those with a left @entity8521 , normal @entity8521 @entity5036 pattern, and continuous branch @entity358 CONCLUSIONS: A chromosome 22q11 deletion is common in individuals with a conoventricular, posterior @entity893 , or @entity509 @entity1757 and anomalies of the @entity8521 or branch @entity358 . On the basis of these findings, at a minimum, we recommend testing for a chromosome 22q11 deletion in @entity1 with these types of @entity1757 who have abnormalities of @entity8521 sidedness or @entity5036 , a cervical @entity8521 , and/or @entity358 . Testing of @entity1 with these types of @entity1757 but a normal @entity8521 and @entity358 may be performed routinely or guided by the presence of associated noncardiovascular features of chromosome 22q11 deletion syndrome.
