Direct duplication of 9p22-->p24 in a child with duplication 9p syndrome.
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 hybridization (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 may be the critical region for duplication 9p syndrome.
Fujimoto
A
A
Department of Pediatrics, Los Angeles County-University of Southern California Medical Center, and University of Southern California School of Medicine, 90033, USA.
Lin
M S
MS
Schwartz
S
S
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D005810:Multigene Family; D013577:Syndrome