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Titolo:
CHARACTERIZATION OF 2 EXTREME VARIANTS INVOLVING THE SHORT ARM OF CHROMOSOME-22 - ARE THEY IDENTICAL
Autore:
CONTE RA; KLEYMAN SM; LAUNDON C; VERMA RS;
Indirizzi:
SUNY HLTH SCI CTR,LONG ISL COLL HOSP,DIV GENET BROOKLYN NY 11201 SUNY HLTH SCI CTR,LONG ISL COLL HOSP,DIV GENET BROOKLYN NY 11201 GENE CARE,CTR MED GENET CHAPEL HILL NC 27514
Titolo Testata:
Annales de genetique
fascicolo: 3, volume: 40, anno: 1997,
pagine: 145 - 149
SICI:
0003-3995(1997)40:3<145:CO2EVI>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALPHA-SATELLITE DNA; RIBOSOMAL-RNA GENES; HUMAN ACROCENTRIC CHROMOSOMES; HUMAN GENOME; III DNA; HYBRIDIZATION; ORGANIZATION; REGIONS; ALUI;
Keywords:
CHROMOSOME 22; HETEROMORPHISM; VARIANT; ALPHA- AND BETA-SATELLITE DNA; FISH-TECHNIQUE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
R.A. Conte et al., "CHARACTERIZATION OF 2 EXTREME VARIANTS INVOLVING THE SHORT ARM OF CHROMOSOME-22 - ARE THEY IDENTICAL", Annales de genetique, 40(3), 1997, pp. 145-149

Abstract

The heteromorphic nature of the short-arms of human acrocentric chromosomes is considered the norm without any dire consequences, We characterized two highly unusual chromosome 22 variants with extremely enlarged short arms by routine and molecular cytogenetic techniques, Routine banding revealed that the two variants were not alike, Therefore, a characterization by fluorescent in situ hybridization (FISH) techniquebecame warranted and revealed their remarkable differences, The firstvariant apparently had a tandem duplication of bands p11.2 --> p13, while the second variant had a loss of the beta-satellite and ribosomalDNA regions with an apparent amplification of the satellite III region, The formation of these extremely enlarged regions can occur by a variety of mechanisms whose clinical significance remains obscure.

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Documento generato il 25/09/20 alle ore 04:20:54