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Titolo:
TETRASOMY-18P IN 2 CASES CONFIRMATION BY IN-SITU HYBRIDIZATION
Autore:
ESMER MD; FRIAS S; GOMEZ L; CARNEVALE A;
Indirizzi:
INST NACL PEDIAT,DEPT INVEST GENET HUMANA,INSURGENTES SUR 3700 C MEXICO CITY 04530 DF MEXICO
Titolo Testata:
Annales de genetique
fascicolo: 3, volume: 37, anno: 1994,
pagine: 156 - 159
SICI:
0003-3995(1994)37:3<156:TI2CCB>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
INSITU HYBRIDIZATION; DIAGNOSIS;
Keywords:
CHROMOSOME 18; TETRASOMY 18P; ISOCHROMOSOME 18P; CHROMOSOME ABNORMALITY;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
9
Recensione:
Indirizzi per estratti:
Citazione:
M.D. Esmer et al., "TETRASOMY-18P IN 2 CASES CONFIRMATION BY IN-SITU HYBRIDIZATION", Annales de genetique, 37(3), 1994, pp. 156-159

Abstract

Two cases with an extra small metacentric chromosome are described. Classic cytogenetic analysis was insufficient for identification of themarker origin. High resolution banding and fluorescence in situ hybridization (FISH) using a chromosome specific painting probe indicated that both marker chromosomes originated from chromosome 18. The correlation between phenotype, cytogenetics and FISH results allowed us to conclude that the patients are tetrasomic for 18p. A comparison of the clinical features of our two patients with other twelve previously reported patients where tetrasomy 18p was confirmed, is also presented.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 08:29:02