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Titolo:
Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene
Autore:
Petek, E; Kroisel, PM; Schuster, M; Zierler, H; Wagner, K;
Indirizzi:
Graz Univ, Inst Med Biol & Human Genet, A-8010 Graz, Austria Graz Univ Graz Austria A-8010 d Biol & Human Genet, A-8010 Graz, Austria
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 3, volume: 84, anno: 1999,
pagine: 229 - 232
SICI:
0148-7299(19990528)84:3<229:MIAFXM>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
CGG REPEAT; MENTAL-RETARDATION; FULL MUTATION; EXPRESSION; INSTABILITY; REGION;
Keywords:
fragile X syndrome; mosaicism; FMR1 gene; deletion;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Wagner, K Graztriav, Inst Med Biol & Human Genet, Harrachgasse 21-8, A-8010 Graz, Aus Graz Univ Harrachgasse 21-8 Graz Austria A-8010 -8010 Graz, Aus
Citazione:
E. Petek et al., "Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene", AM J MED G, 84(3), 1999, pp. 229-232

Abstract

In most cases the fragile X syndrome is caused by an amplification of the CGG trinucleotide repeat in the 5' untranslated region of the FMR1 gene, incombination with the hypermethylation of the proximal CpG island. Recently, also a few cases with deletions or a mosaic of a deletion and a full mutation in the FMR1 gene, leading to the same phenotype, have been described. Here we report the molecular analysis of a patient with typical fragile X phenotype and mosaicism of the FMR1 genomic region consisting of a premutation, a full mutation of the CGG repeats, and a 215 bp deletion, diagnosed bySouthern blot hybridisation and polymerase chain reaction (PCR), Sequence analysis of the deletion demonstrated that the 5' breakpoint of the deletion is located within a putative hotspot region 75-53 bp proximal to the CGG repeat. (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/04/20 alle ore 18:32:49