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FISH analysis in detecting 9p duplication (p22p24)

✍ Scribed by Franchi, P. Guanciali; Calabrese, G.; Morizio, E.; Modestini, E.; Stuppia, L.; Mingarelli, R.; Palka, G.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 15 KB
Volume: 90
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000103)90:1<35::aid-ajmg7>3.0.co;2-x

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✦ Synopsis

Authors report on a case of partial 9p duplication, involving the 9p22-9p24 region. This represents the second case of such duplication in which the breakpoints were precisely defined using fluorescence in situ hybridisation (FISH) with chromosome 9 specific painting and YAC DNA probes, localised onto 9p22-9p24 region. FISH analysis pinpointed chromosome breakpoints in dup(9)(p22p24) and excluded an insertion or a translocation from other chromosomes. The present report supports the segment 9p22-9p24 as the critical region for the observed phenotype of the duplication 9p syndrome.

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