Oncology Probes

MD Wolf-Hirschhorn WHSC1 (4p16)Wolf-Hirschhorn syndrome (WHS) affected individuals haveprenatal-onset growth deficiency followed by postnatal growthretardation and hypotonia with muscle under-development.Developmental delay/mental retardation of variable degreeis present in all. FISH analysis using a WHSC1 specific probefor chromosomal locus 4p16.3 detects more than 95% ofdeletions in WHS.The Wolf-Hirschhorn region probe is optimized to detect copynumbers of the Wolf-Hirschhorn critical region at 4p16. Thechromosome 4 satellite enumeration (SE 4) probe at D4Z1 isincluded to facilitate chromosome identification.MD Cri-Du-Chat CTNND (5p15) / 5q31Cri-Du-Chat syndrome is an autosomal deletion syndromecaused by a partial deletion of chromosome 5p. It ischaracterized by a distinctive, high-pitched, catlikecry in infancy with growth failure, microcephaly, facialabnormalities, and mental retardation throughout life. Lossof a small region in band 5p15.2 (Cri-Du-Chat critical region)correlates with all the clinical features of the syndrome withthe exception of the catlike cry, which maps to band 5p15.3(catlike cry critical region).The Cri-Du-Chat region probe is optimized to detect copynumbers at the CTNND2 gene region in the Cri-Du-Chatcritical region at 5p15.2. The 5q31 specific DNA probe isincluded as control probe.Cat.# KBI-40107 Wolf-Hirschhorn WHSC1 (4p16) / SE 4Cat.# KBI-40106 Cri-Du-Chat CTNND (5p15) / 5q31D4Z14p16RH181375p15.2D5S117D4S114WHSC1D4S166120 KB5q31CTNND2RH121454SH6C-153474D5S2874580 KB45Oncology Microdeletion probes ProbesWolf-Hirschhorn WHSC1 (4p16) / SE 4 probe hybridized to Wolf-Hirschhorn patient material showing a deletion of the WHSC1 generegion at 4p16 (1R2G).Image kindly provided by Prof Zollino, RomeLiterature:Gandelman et al, 1992, Am J Hum Genet, 51: 571-578.Wright et al, 1997, Hum Mol Genet, 6: 317-324.Ordering information Gene Region Tests Cat#MD Wolf-Hirschhorn WHSC1 (4p16) / SE 4 WHSC1 10 KBI-40107Cri-Du-Chat CTNND (5p15) / 5q31 probe hybridized to a normalmetaphase (2R2G).Literature:Overhauser et al, 1994, Hum Mol Genet, 3: 247-252.Gersh et al, 1997, Cytogenet Cell Genet, 77: 246-251.Ordering information Gene Region Tests Cat#MD Cri-Du-Chat CTNND (5p15) / 5q31 5p- 10 KBI-4010678