Miller-Dieker PAFAH1B1 (17p13)/ Smith-Magenis RAI1 (17p11) probe hybridized to a normal metaphase (2RG).

IVD PAFAH1B1/17p11

The Miller-Dieker lissencephaly syndrome appears to be caused by deletion of several genes on 17p including the PAFAH1B1 (previously known as LIS1) gene.
About 15% of patients with isolated lissencephaly and more than 90% of patients with Miller-Dieker syndrome have microdeletions in a critical 350-kb region at 17p13.3. Smith-Magenis is caused by a deletion of 17p11.2. The RAI1 (previously known as SMCR, KIAA1820 or SMS) gene region has been identified to be deleted in more than 90% of Smith-Magenis syndrome patients. The Miller-Dieker PAFAH1B1 region probe is optimized to detect copy numbers of the PAFAH1B1 region at 17p13. The Smith-Magenis RAI1 region probe is optimized to detect copy numbers of the RAI1 gene region at 17p11.

References:
Kuwano et al, 1991, Am. J. Hum. Genet., 49; 707-714.
Cardoso et al, 2003, Am. J. Hum. Genet., 72; 918-930.
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.

製品

製品

KBI-40101
MD MDCR LIS (17p13) / SMC RAI (17p11)10T
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