A. Fujimoto et al., DIRECT DUPLICATION OF 9P22-]P24 IN A CHILD WITH DUPLICATION 9P SYNDROME, American journal of medical genetics, 77(4), 1998, pp. 268-271
A de novo direct duplication of 9p22-->p24 was shown in a child with a
duplication 9p phenotype by GTG banding and fluorescence in situ hybr
idization (FISH) using a chromosome-9 specific painting probe as well
as 6 YAC DNA probes localized to the 9p13-9p23 region. The breakpoints
in this patient and previously reported patients suggest that 9p22 ma
y be the critical region for duplication 9p syndrome. (C) 1998 Wiley-L
iss, Inc.