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Mikrodeletion Panel primeFISH Products
MICRODELETION
PANEL
17-019 Digeorge N25
22qll.2 deletion syndrome, alsa known as velocardio- of 22qll.2 includes cardiac defects, immunodeficiency,
facial syndrome (VCFS) and DiGeorge syndrome, is a growth restriction, and cognitive deficits. 22qll.2 deletion
genetic disorder caused by hemizygous microdeletions usually occurs by meiotic non-allelic homologous recom-
on chromosome 22qll.2. The population prevalence is l bination events between low copy repeats called LCR22
in 4000 births. The characteristic phenotype of dele tion on chromosome 22qll.2.
MICRODELETION
D22S947 D22S1567
5' 3'
Cent Tel
ESS2
125 kb NORMAL
22q11.21
RH94173 RH70758
5' 3'
Cent Tel
22q13.33
ARSA DELETION
361 kb
(Not to scale)
References
www.diagen.com.tr Michaelovsky E, et al. (2012) BMC Med Genet 13: 122
Morrow BE, et al. (2018) Am J Med Genet A 176: 2070-81.
Wilson HL et al., J Med Genet 2003;40(8):575-84
42 PRODUCT CATALOGUE
