Oncology Probes

Phelan-McDermid SyndromeThe 22q13 deletion syndrome (or Phelan-McDermidsyndrome) is characterized by moderate to profoundmental retardation, delay/absence of expressivespeech, hypotonia, normal to accelerated growth,and mild dysmorphic features. A terminal deletionincluding the SHANK3 gene region has been identifiedfor this syndrome.MD DiGeorge (22q11) / 22q13 (SHANK3)The 22q13 DNA probe is optimized to detect copy numbersof the SHANK3 gene region at 22q13. The DiGeorge regionprobe at 22q11 is serving as internal control.MD DiGeorge II (10p14) / SE 10DiGeorge and VCFS present many clinical problems and arefrequently associated with deletions within 22q11.2 (seeprevious probes), but a number of cases have no detectablemolecular defect of this region. A number of single casereports with deletions of 10p suggest genetic heterogeneityof DiGeorge syndrome. FISH analysis demonstrates that thesepatients have overlapping deletions at the 10p13/10p14boundary. The shortest region of deletion overlap (SRO) hasbeen identified in a 1 cM interval including makers D10S547and D10S585.The DiGeorge II region probe is optimized to detect copynumbers of the DGCRII (DiGeorge critical region gene 2)at 10p14. The chromosome 10 satellite enumeration (SE10) probe at D10Z1 is included to facilitate chromosomeidentification.Cat.# KBI-40105 MD DiGeorge II (10p14) / SE 1010p14D10Z1D10S547RH-112076DGCR2350 KBRH66174WI-945210MD DiGeorge T-box1 (22q11) / 22q13 (SHANK3) probehybridized to patient material showing a deletion ofthe SHANK3 region at 22q13 (2R1G).Literature:Wilson, et al, 2003, J Med Genet 40; 575-584.Luciani, et al, 2003, J Med Genet 40; 690-696.Ordering information Gene Region Tests Cat#MD DiGeorge “N25” (22q11) / 22q13 (SHANK3) N25 10 KBI-40102MD DiGeorge Tuple (22q11) / 22q13 (SHANK3) TUPLE 10 KBI-40103MD DiGeorge T-box1 (22q11) / 22q13 (SHANK3) TBX1 10 KBI-40104MD DiGeorge II(10p14) / SE 10 probe hybridized toDiGeorge II patient material showing a deletion of the DGCRIIgene region at 10p14 (1R2G).Imaqe kindly provided by Azzedine Aboura, Hôpital Robert Debré ParisLiterature:Monaco et al, 1991, Am J Med Genet, 39: 215-216.Schuffenhauer et al, 1998, Eur J Hum Genet, 6: 213-225.Ordering information Gene Region Tests Cat#MD DiGeorge II (10p14) / SE 10 10p- 10 KBI-40105Microdeletion Probes73