We report the detection bf 22q11.2 deletions using TaqMan (TM) PCR-based ge
ne dosage analysis of patients previously diagnosed by fluorescent in situ
hybridization (FISH). We performed quantitative PCR of the UFD1L gene from
this region and showed a 99.7% statistical correlation between the two meth
ods. The advantages of this method over FISH include: (i) rapidity; (ii) ea
se; (iii) relatively low cost and; (iv) the small quantities of DNA needed.
(C) 2001 Academic Press