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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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