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Titolo:
Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene
Autore:
Schwartzman, JS; Bernardino, A; Nishimura, A; Gomes, RR; Zatz, M;
Indirizzi:
Univ Sao Paulo, Inst Biociencias, Dept Biol, Ctr Estudos Genoma Humano, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo Sao Paulo Brazil BR-05508900 BC05508900 Sao Paulo, Brazil Univ Mackenzie, Sao Paulo, Brazil Univ Mackenzie Sao Paulo BrazilUniv Mackenzie, Sao Paulo, Brazil
Titolo Testata:
NEUROPEDIATRICS
fascicolo: 3, volume: 32, anno: 2001,
pagine: 162 - 164
SICI:
0174-304X(200106)32:3<162:RSIABW>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKED MENTAL-RETARDATION;
Keywords:
Rett syndrome; XXY karyotype; MECP2 mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Zatz, M Univ Sao Paulo, Inst Biociencias, Dept Biol, Ctr Estudos Genoma Humano, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo Sao Paulo Brazil BR-05508900 BC Sao Paulo, Brazil
Citazione:
J.S. Schwartzman et al., "Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene", NEUROPEDIAT, 32(3), 2001, pp. 162-164

Abstract

Rett syndrome (RTT) is an X-linked condition which affects almost exclusively females. Here we report the first case of RTT syndrome in a boy with anXXY chromosomal constitution. Mutation analysis of the MECP2 gene in the affected patient revealed a 423 C -->G substitution in exon 4, resulting in a new stop codon (Y141 X). This change was not present in both his parents or in his older sister. Taking into account the incidence of both RTT syndrome as well as of Klinefelter syndrome, the probability for the simultaneous occurrence of these two events is very low (about similar to 1 in 10 to 15,000,000 births). However, the recent identification of mutations in the MECP2 gene in affected males indicates that screening of the MECP2 gene should be considered also in males with severe mental retardation (MR) in whom the most common forms of MR have been excluded.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/20 alle ore 12:59:38