Recenti progressi della citogenetica e della biologia molecolare nella diagnosi delle sindromi malformative.

Translated title of the contribution: Current advances in the cytogenetics and molecular biology of the diagnosis of malformation syndromes

Research output: Contribution to journalArticle

Abstract

Consistent progress has been obtained in recent years in the diagnosis and understanding of genetic disease. High resolution chromosome analysis has narrowed the gap between cytogenetics and Mendelism by proving that some diseases considered to be due to monogenic inheritance result in fact from deletion of contiguous genes or breakage of a specific gene. Gene "imprinting" has been found to be the cause of some syndromes, such as the Prader-Willi, Angelman, and Beckwith-Wiedemann. Molecular cytogenetics has become a tool for analysing small rearrangements not easily seen using traditional chromosome analysis, for detecting mosaicisms, and narrowing the "critical" regions of chromosomal syndromes. "Positional cloning" techniques have improved our ability to map disease-genes. Linkage studies and direct analysis of cloned genes are now having a large impact on the analysis of genetic diseases segregating in families, and in testing for healthy heterozygotes and presymptomatic patients. Discovery of mutations in the mitochondrial genome has widened our understanding of disease inheritance. A few disorders have been shown to be due to tandem amplification of GC-rich intragenic triplets. Genetic counseling has taken advantage of these improvements which have a large impact on our knowledge of genetic heterogeneity and variability.

Original languageItalian
Pages (from-to)10-13
Number of pages4
JournalPediatria Medica e Chirurgica
Volume15 Suppl 1
Publication statusPublished - May 1993

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Cytogenetics
Molecular Biology
Inborn Genetic Diseases
Genes
Chromosomes
Aptitude
Mosaicism
Mitochondrial Genome
Genetic Heterogeneity
Genetic Counseling
Gene Deletion
Heterozygote
Organism Cloning
Mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

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title = "Recenti progressi della citogenetica e della biologia molecolare nella diagnosi delle sindromi malformative.",
abstract = "Consistent progress has been obtained in recent years in the diagnosis and understanding of genetic disease. High resolution chromosome analysis has narrowed the gap between cytogenetics and Mendelism by proving that some diseases considered to be due to monogenic inheritance result in fact from deletion of contiguous genes or breakage of a specific gene. Gene {"}imprinting{"} has been found to be the cause of some syndromes, such as the Prader-Willi, Angelman, and Beckwith-Wiedemann. Molecular cytogenetics has become a tool for analysing small rearrangements not easily seen using traditional chromosome analysis, for detecting mosaicisms, and narrowing the {"}critical{"} regions of chromosomal syndromes. {"}Positional cloning{"} techniques have improved our ability to map disease-genes. Linkage studies and direct analysis of cloned genes are now having a large impact on the analysis of genetic diseases segregating in families, and in testing for healthy heterozygotes and presymptomatic patients. Discovery of mutations in the mitochondrial genome has widened our understanding of disease inheritance. A few disorders have been shown to be due to tandem amplification of GC-rich intragenic triplets. Genetic counseling has taken advantage of these improvements which have a large impact on our knowledge of genetic heterogeneity and variability.",
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