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PubMed · 10602115

FISH analysis in detecting 9p duplication (p22p24).

P Guanciali Franchi·G Calabrese·E Morizio·E Modestini·L Stuppia·R Mingarelli·G Palka
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Abstract

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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Abnormalities, MultipleChromosomes, Human, Pair 9FemaleGene DuplicationHumansIn Situ Hybridization, FluorescenceInfantMaleCase ReportsJournal Article

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BibTeXRIS

P Guanciali Franchi, G Calabrese, E Morizio, E Modestini, L Stuppia, R Mingarelli, G Palka. 2000-01-03. FISH analysis in detecting 9p duplication (p22p24).. https://pubmed.ncbi.nlm.nih.gov/10602115/

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