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Titolo:
IDENTIFICATION OF SEX-CHROMOSOME MARKERS USING FLUORESCENCE IN-SITU HYBRIDIZATION (FISH)
Autore:
GONZALEZDELANGEL A; BLANCO B; DELCASTILLO V; CARNEVALE A;
Indirizzi:
INST NACL PEDIAT,DEPT INVEST GENET HUMANA,INSURGENTES SUR 3700-C MEXICO CITY 04530 DF MEXICO
Titolo Testata:
Revista de Investigacion Clinica
fascicolo: 2, volume: 47, anno: 1995,
pagine: 117 - 125
SICI:
0034-8376(1995)47:2<117:IOSMUF>2.0.ZU;2-N
Fonte:
ISI
Lingua:
SPA
Keywords:
TURNER SYNDROME; MOSAICISM; MARKER CHROMOSOME; X CHROMOSOME; Y CHROMOSOME; FISH;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
NO
Recensione:
Indirizzi per estratti:
Citazione:
A. Gonzalezdelangel et al., "IDENTIFICATION OF SEX-CHROMOSOME MARKERS USING FLUORESCENCE IN-SITU HYBRIDIZATION (FISH)", Revista de Investigacion Clinica, 47(2), 1995, pp. 117-125

Abstract

From 6 to 15% of the patients with Turner syndrome have a mosaic karyotype, i.e. a 45,X cell line and another with a small sex chromosome marker of undetermined origin which may be a ring or a centric fragment. It is important to establish whether this marker chromosome derives from a Y chromosome as this implies that the patient has a high risk of developing gonadoblastoma. The objective of the present paper was toidentify the origin of small sex chromosome markers using fluorescence in situ hybridization (FISH). Eight patients were studied; seven hada Turner phenotype and one had a short stature with ambiguous genitalia. In all cases karyotype in peripheral lymphocytes showed mosaicism,with one cell line that had a sex chromosome marker, and in three cases, the mosaicism was corroborated in fibroblast cultures. Biotin labeled DNA probes with complementary centromeric alpha-satellite sequences of chromosomes X and Y were used in the FISH technique. In seven patients the chromosome marker came from the X chromosome as established with the X chromosome alpha-satellite probe. In the patient with ambiguous genitalia, the marker did derive from the Y chromosome. We conclude that the FISH technique proved to be useful to establish the originof sex chromosome markers in our laboratory.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 02:16:16