FISH analysis in detecting 9p duplication (p22p24)

P. Guanciali Franchi; G. Calabrese; E. Morizio; E. Modestini; L. Stuppia; R. Mingarelli; G. Palka

doi:10.1002/(SICI)1096-8628(20000103)90:1<35::AID-AJMG7>3.0.CO;2-X

FISH analysis in detecting 9p duplication (p22p24)

P. Guanciali Franchi, G. Calabrese, E. Morizio, E. Modestini, L. Stuppia, R. Mingarelli, G. Palka

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	35-37
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	90
Issue number	1
DOIs	https://doi.org/10.1002/(SICI)1096-8628(20000103)90:1<35::AID-AJMG7>3.0.CO;2-X
Publication status	Published - 2000

Keywords

Chromosome 9p
Duplication
FISH
Phenotype

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/(SICI)1096-8628(20000103)90:1<35::AID-AJMG7>3.0.CO;2-X

Cite this

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title = "FISH analysis in detecting 9p duplication (p22p24)",

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.",

keywords = "Chromosome 9p, Duplication, FISH, Phenotype",

author = "Franchi, {P. Guanciali} and G. Calabrese and E. Morizio and E. Modestini and L. Stuppia and R. Mingarelli and G. Palka",

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T1 - FISH analysis in detecting 9p duplication (p22p24)

AU - Franchi, P. Guanciali

AU - Calabrese, G.

AU - Morizio, E.

AU - Modestini, E.

AU - Stuppia, L.

AU - Mingarelli, R.

AU - Palka, G.

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

KW - Chromosome 9p

KW - Duplication

KW - FISH

KW - Phenotype

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FISH analysis in detecting 9p duplication (p22p24)

Abstract

Keywords

ASJC Scopus subject areas

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