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

✍ Scribed by Fujimoto, Atsuko; Lin, Ming S.; Schwartz, Stuart

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 21 KB
Volume: 77
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980526)77:4<268::aid-ajmg3>3.0.co;2-j

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✦ Synopsis

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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