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Titolo:
Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy
Autore:
Dos Santos, MR; Vieira, EM; Lima, MR;
Indirizzi:
Inst Genet Med Jacinto de Magalhaes, Mol Genet Unit, P-4050466 Oporto, Portugal Inst Genet Med Jacinto de Magalhaes Oporto Portugal P-4050466 , Portugal Inst Genet Med Jacinto de Magalhaes, Counseling Clin, P-4050466 Oporto, Portugal Inst Genet Med Jacinto de Magalhaes Oporto Portugal P-4050466 , Portugal
Titolo Testata:
GENETIC COUNSELING
fascicolo: 3, volume: 12, anno: 2001,
pagine: 223 - 229
SICI:
1015-8146(2001)12:3<223:MDACIA>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
BETA-SARCOGLYCAN; MISSENSE MUTATIONS; GAMMA-SARCOGLYCAN; GENE; COMPLEX;
Keywords:
sarcoglycanopathy; compound heterozygosity; counseling;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Dos Santos, MR Inst Genet Med Jacinto de Magalhaes, Mol Genet Unit, Praca Pedro Nunes 88,P-4050466 Oporto, Portugal Inst Genet Med Jacinto de Magalhaes Praca Pedro Nunes 88 Oporto Portugal P-4050466
Citazione:
M.R. Dos Santos et al., "Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy", GEN COUNSEL, 12(3), 2001, pp. 223-229

Abstract

Molecular diagnosis and conseling in a family presenting compound heterozygosity for autosomal recessive limb-gridle muscular dystrophy,. The presentreport concerns two patients, male and female siblings, manifesting a different degree of severity for the same autosomal recessive limb-girdle muscular dystrophy. The index case (male sib) carried the clinical diagnosis of Becker muscular dystrophy at the time when the sister, with a much milder presentation, first sought counseling and prenatal diagnosis for a pregnancyalready in course. Molecular and immunocytochemical tests then available favoured the diagnosis of an autosomal recessive myopathy, but did not enable exclusion of a dystrophinopathy. The couple was counseled accordingly, although prenatal diagnosis could not be offered. Both patients were later found to carry one gamma and two alpha -sarcoglycan gene mutations, one of the latter being new. This raised a counseling dilemma: depending on which combination was the disease-causing genotype, there would be a minimal or a significant 25% risk to offspring. We describe the studies carried out and emphasise the importance of differential diagnosis and extensive molecular characterisation in this group of disorders, so as to enable correct geneticcounseling and prenatal diagnosis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 10:54:12