DiGeorge syndrome, and a variety of congenital malformation syndromes including Velocardiofacial (VCFS) and Conotruncal Anomaly Face syndromes, share the phenotypic features covered by the acronym CATCH22 (Cardiac defects; Abnormal facies; Thymic hypoplasia; Cleft palate; Hypocalcaemia) and deletion of chromosome 22 at 22q11.2.
This probe is a 117 kb red probe that hybridizes to the 22q11 region of chromosome 22. The hybridization target spans from 87 kb centromeric to the HIRA gene to a point within the gene, 13 kb from from its telomeric end. 22q is 96 kb in size, labeled in SpectrumGreen and hybridizes to the 22q13 subtelomeric region of chromosome 22.
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