Oncology Probes

MD NSD1 (5q35) / hTERT (5p15)NSD1 microdeletions (chromosome 5q35) are the majorcause of Sotos syndrome, and occur in some cases of Weaversyndrome. Sotos is a childhood overgrowth characterizedby distinctive craniofacial features, advanced bone age, andmental retardation. Weaver syndrome is characterized by thesame criteria but has its own specific facial characteristics.Sotos syndrome is inherited in an autosomal dominant manner.While 50% of Sotos patients in Asia are showing a chromosomalmicrodeletion, only 9% deletion cases are observed in theaffected European population.The NSD1 (5q35) region probe is optimized to detect copynumbers of the NSD1 gene region at 5q35.2. The hTERT regionspecific DNA probe at 5p15 is included as control probe.MD NF1 (17q11) / MPO (17q22)NF1, or von Recklinghausen disease, is one of the most commonhereditary neurocutaneous disorders in humans and one ofthe most common single gene syndromes. Clinically, NF1 ischaracterized by café-au-lait spots, freckling, skin neurofibroma,plexiform neurofibroma, bone defects, Lisch nodules andtumors of the central nervous system. The responsible gene,NF1 (neurofibromin), was identified on chromosome 17q11.Whole NF1 gene deletions occur in 4%-5% of individuals withNF1 and can be detected by FISH analysis.The NF1 (17q11) region probe is optimized to detect copynumbers of the NF1 gene region at 17q11.2.The MPO region specific DNA probe at 17q22 is included ascontrol probe.Cat.# KBI-40113 NSD1 (5q35) / hTERT (5p15)Cat.# KBI-40114 NF1 (17q11) / MPO (17q22)5p15.3D5S1981D17S1307NF1420 KBhTERT190 KBD5S226917q11RH25868D5S27031717q225q35NSD1320 KBD17S21515D5S1624EMPO400 KBSHGC-144222Microdeletion ProbesNSD1 (5q35) / hTERT (5p15) probehybridized to a normal metaphase(2R2G).Literature:Douglas et al, 2003, Am. J. Hum. Genet. 72; 132-143Rio et al, 2003, J. Med. Genet. 40; 436-440NSD1 (5q35) / hTERT (5p15) probehybridized to patient materialshowing a microdeletion of theNSD1 gene region at 5q35 (1R2G).Ordering information Gene Region Tests Cat#MD NSD1 (5q35) / hTERT (5p15) NSD1 10 KBI-40113NF1 (17q11) / MPO (17q22) probe hybridized topatient material showing a deletion of NF1 gene regionat 17q11 (1R2G).Literature:Riva P et al, 2000, Am.J.Hum.Genet. 66; 100-109Dorschner et al, 2000, Hum.Mol.Genet. 9; 35-46Ordering information Gene Region Tests Cat#MD NF1 (17q11) / MPO (17q22) NF1 10 KBI-4011474