[Molecular chromosomic genetics in prenatal and perinatal diagnosis of chromosomal anomalies and genetic diseases].
Prenatal and perinatal diagnosis needs a rapid, accurate and overall genome analysis. Molecular chromosomic techniques such as fluorescent in situ hybridization (FISH) with "cold" (not radioactively labeled) probes combine techniques of both conventional chromosome banding and molecular biology. FISH is a powerful tool for detecting some genetic diseases as well as microscopic or submicroscopic chromosome rearrangements, in metaphases cells or interphase nuclei.
Lespinasse
J
J
Laboratoire de génétique chromosomique, Centre hospitalier de Chambéry. james.lespinasse@ch-chambery.rss.fr
Nadeau
G
G
D002869:Chromosome Aberrations; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008967:Molecular Biology; D011296:Prenatal Diagnosis; D012680:Sensitivity and Specificity