DiGeorge "N25" (22q11) / 22q13 (SHANK3) probe hybridized to a normal metaphase (2R2G).
DiGeorge "N25" (22q11) / 22q13 (SHANK3) probe hybridized to a normal metaphase (2R2G).
IVD "N25"/SHANK3
The DiGeorge ""N25"" FISH probe was the first commercial microdeletion probe for chromosome 22q and detects the locus D22S75. This marker is located between DGCR2 and CLTCL1 (Clathrin). Both genes have been extensively investigated and their role in DiGeorge syndrome is well established. The DiGeorge ""N25"" region probe covers the marker ""N25"" (D22S75) and adjacent region of CLTCL1 (Clathrin gene region) and DGCR2 (DiGeorge critical region gene 2). The SHANK3 FISH probe at 22q13 is serving as internal control.
References: Sirotkin et al, 1996, Hum. Mol. Genet., 5; 617-624. Holmes et al, 1997, Hum. Mol. Genet., 6; 357-367. Wilson, et al, 2003, J. Med. Genet., 40; 575-584. Luciani, et al, 2003, J. Med. Genet., 40; 690-696.
