EmArray Cyto6000 - Oligonucleotide Array Analysis with FISH Confirmation
  CLINICAL INTERPRETATION AND SIGNIFICANCE

 
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.