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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.

DELETION
D22S947 D22S1567
5' 3'
Gen Tel
ESS2

125 kb NORMAL
22q11.21

RH94173 RH70758
5' 3'
Gen 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

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