Oncology Probes

DiGeorge / Velocardiofacial Syndrome (VCFS)Microdeletion of chromosome 22 accounts for morethan 90% of cases of DiGeorge anomaly which hasan incidence of 1 in 4000 live births. Deletionsof chromosome 22q11.2 are found in the vastmajority of patients with DiGeorge anomaly andVCFS. Most deletions are de novo, with 10% or lessinherited from an affected parent. All probes thatare currently in use to detect deletions in DiGeorgeand VCFS are located within the described minimalcritical region of 1.5 Mb.MD DiGeorge “N25” (22q11) / 22q13 (SHANK3)The DiGeorge “N25” probe was the first commercialmicrodeletion probe for chromosome 22q and detects the locusD22S75. This marker is located between DGCR2 and CLH22(Clathrin). Both genes have been extensively investigated andtheir role in DiGeorge syndrome is well established.The DiGeorge ”N25” region probe covers the marker “N25”(D22S75) and adjacent region of CLH22 (Clathrin gene region)and DGCR2 (DiGeorge critical region gene 2). The SHANK3probe at 22q13 is serving as internal control.Cat.# KBI-40102 MD DiGeorge “N25” (22q11) / 22q13 (SHANK3)D22S1660DGCR2"N25"250 KBCLH22D22S164622q11.2D22S55322TUPLERH845722q13ARSASHANK3130 KBRH38881MD DiGeorge "N25" (22q11) / 22q13 (SHANK3) probe hybridized toa normal metaphase (2R2G).Literature: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; 575-584Luciani, et al, 2003, J Med Genet 40; 690-696Ordering information Gene Region Tests Cat#MD DiGeorge “N25” (22q11) / 22q13 (SHANK3) N25 10 KBI-40102Microdeletion Probes71