Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Dieci anni di pediatria: che cosa è cambiato nella genetica

WHAT HAS CHANGED IN GENETICS IN THE LAST 10 YEARS

GIOVANNI CORSELLO

Dipartimento Materno-Infantile, Università di Palermo

Giugno 2006 - pagg. 359 -364

Abstract
The recent developments of genetics allow a clearer diagnosis of most of the syndromes and diseases due to defects of the genetic code and of the chromosomal pattern. New techniques such as FISH (Fluorescent in Situ Hybridization) and CGH-microarrays (Comparative Genomic Hybridization) may help to define those syndromes with submicroscopic abnormalities which cannot be diagnosed by standard cytogenetic analyses. In addition, such techniques may find subtelomeric rearrangements responsible for mental retardation and malformations with sporadic occurrence and without elements recalling any known syndrome (about 7% of severe mental retarded children show a telomeric defect). Syndromes with abnormalities of genetic mechanisms without mendelian inheritance may be diagnosed with DNA and cytogenetis procedures, showing for example defects of genomic imprinting, uniparental disomies, dynamic mutations with trinucleotied amplification. Prenatal diagnosis and therefore genetic counselling to couples and families may be influenced by the application of these new techniques
Parole chiave
Clinical Genetics Consulenza genetica Genetic counselling genetica clinica Sindromi Syndromes
Suggerite dall'AI
Malattie genetiche
Classificazione MeSH
Genetic Phenomena Genetic Variation Mutation Chromosome Aberrations (8)
Investigative Techniques Genetic Techniques Cytogenetic Analysis Comparative Genomic Hybridization (3)
Diagnosis Diagnostic Techniques and Procedures Clinical Laboratory Techniques Cytological Techniques Cytogenetic Analysis (3)
Natural Science Disciplines Biological Science Disciplines Biology Genetics Human Genetics Genetics, Medical
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn (26)
Genetic Phenomena Gene Expression Regulation Epigenesis, Genetic Genomic Imprinting (12)
Diagnosis Diagnostic Techniques and Procedures Clinical Laboratory Techniques Cytological Techniques Histocytological Preparation Techniques Staining and Labeling
Pathological Conditions, Signs and Symptoms Signs and Symptoms Neurologic Manifestations Neurobehavioral Manifestations Intellectual Disability (62)
Diagnosis Diagnostic Techniques and Procedures Diagnostic Techniques, Obstetrical and Gynecological Prenatal Diagnosis (36)
Cells Cellular Structures Intracellular Space Cell Nucleus Cell Nucleus Structures Intranuclear Space
Chemical Phenomena Biochemical Phenomena Molecular Structure Base Sequence Repetitive Sequences, Nucleic Acid Tandem Repeat Sequences
Pathological Conditions, Signs and Symptoms Pathologic Processes Chromosome Aberrations Nondisjunction, Genetic Uniparental Disomy (5)
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Bibliografia
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Corrispondenza: giocors@aliceposta.it