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Case Reports
. 1998 May 26;77(4):268-71.

Direct duplication of 9p22-->p24 in a child with duplication 9p syndrome

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  • PMID: 9600733
Case Reports

Direct duplication of 9p22-->p24 in a child with duplication 9p syndrome

A Fujimoto et al. Am J Med Genet. .

Abstract

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.

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