Oncology Probes

MD Miller-Dieker LIS (17p13) / Smith-MagenisRAI (17p11)Miller-Dieker Syndrome (MDS) is characterized by classicallissencephaly and distinct facial features. The lissencephalyrepresents the severe end of the spectrum with generalizedagyria or agyria with some frontal pachygyria. Submicroscopicdeletions of 17p13.3 including the LIS1 (now calledPAFAH1B1, platelet-activating factor acetylhydrolase) geneare found in almost 100% of patients.The Miller-Dieker region probe is optimized to detect copynumbers of the PAFAH1B1 gene (LIS1) region at 17p13.3.The Smith-Magenis RAI1 region probe at 17p11.2 is servingas internal control.Smith-Magenis Syndrome (SMS) is characterized by distinctivefacial features that progress with age, developmentaldelay, cognitive impairment, and behavioral abnormalities.Molecular cytogenetic analysis by FISH using a DNA probespecific for the SMS critical region is recommended in casesof submicroscopic deletions and/or to resolve equivocalcases. RAI1 is the only gene known to account for a majorityof features in SMS. All 17p11.2 deletions associated withSMS include a deletion of RAI1.The Smith-Magenis region probe is optimized to detectcopy numbers of the RAI1 gene region involved in Smith-Magenis syndrome at 17p11.2. The Miller-Dieker LIS1 probeat 17p13.3 is serving as internal control.Cat.# KBI-40101 Miller-Dieker LIS (17p13) / Smith-Magenis RAI (17p11)RH34464PAFAH1B117p13.3D17S1583D17S1682350 KBD17S15811717p11.2RH122147RAI1250 KBRH68538D17S447FLI1Miller-Dieker LIS (17p13) / Smith-Magenis RAI (17p11) probehybridized to a normal metaphase (2RG).Literature:Kuwano et al, 1991, Am J Hum Genet, 49: 707-714.Cardoso et al, 2003, Am J Hum Genet, 72: 918-930.Miller-Dieker LIS (17p13) / Smith-Magenis RAI (17p11) probehybridized to Smith-Magenis patient material showing a deletion ofthe RAI1 gene region at 17p11 (2R1G).Image kindly provided by Prof Jauch, Heidelberg.Literature:Smith et al, 1986, Am J Med Genet, 24: 393-414.Greenberg et al, 1991, Am J Med Genet, 49: 1207-1218.Vlangos et al, 2005, Am J Med Genet, 132: 278-282.Ordering information Gene Region Tests Cat#MD Miller-Dieker LIS (17p13) / Smith-MagenisRAI (17p11)LIS1/RAI1 10 KBI-40101Microdeletion Probes77