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Results: ABNORMAL FEMALE MICROARRAY ANALYSIS
 
 
NOMENCLATURE:  arr cgh 22q11.21(17,086,001bp->19,835,417bp)x1
 
Microarray and confirmatory Fluorescence In Situ Hybridization 
(FISH) analyses revealed an interstitial deletion of the long 
arm of chromosome 22 involving the 22q11.2 deletion syndrome 
region. The 22q11.2 deletion syndrome is also known as 
Velocardiofacial syndrome and DiGeorge syndrome (OMIM #192430) 
and is characterized by features such as developmental delays, 
particularly in the areas of speech/language, craniofacial 
anomalies, such as cleft palate, congenital heart defects, 
hypocalcemia and immune deficiency. The deletion in this 
individual is 2.75 Megabases (Mb) in size, consistent with 
the common 3.0 Mb deletion of the 22q11.2 Deletion syndrome 
region.
 
Thanks to Christa Martin, Emory University, for providing the original
document.
 
        	    
		     
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