Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence

Autor:	Grant R. Sutherland, Agi Gedeon, Louise Kornman, Andrew Donnelly, Roger W. Byard, John C. Mulley, Eric Kremer, Michael Lynch, Melanie Pritchard, Sui Yu, Robert I. Richards
Rok vydání:	1991
Předmět:	Genetics Fetus Pathology medicine.medical_specialty Mutation Amniotic fluid business.industry Chromosomal fragile site Nucleic acid sequence Prenatal diagnosis General Medicine medicine.disease medicine.disease_cause Fragile X syndrome chemistry.chemical_compound chemistry Medicine business DNA
Zdroj:	Scopus-Elsevier
ISSN:	1533-4406 0028-4793
DOI:	10.1056/nejm199112123252407
Popis:	FRAGILE X syndrome is the most common form of familial mental retardation.1 Its prenatal diagnosis has relied on cytogenetic detection of the fragile X chromosome in cultured amniotic fluid, chorionic-villus cells, or fetal blood obtained by cordocentesis. The rate of misdiagnosis is about 5 percent and is due to rare false positive and more frequent false negative diagnoses.2 A molecular-genetic approach using DNA polymorphisms linked to the fragile site is feasible for diagnosis, but the results are probabilistic rather than absolutely diagnostic.3 , 4 The fragile X syndrome has recently been shown to be characterized by an unstable DNA sequence that can . . .
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4122eac88bcfcc1d74529ec7ebbbdf19 https://doi.org/10.1056/nejm199112123252407 Zobrazit plný text záznamu