Australian family physician · 2000
New insights into the genetic basis of intellectual disabilities.
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Skellern C, Lennox N, Glass I
Аннотация
BACKGROUND: Within general practice patients with intellectual disabilities are common.
OBJECTIVE: This article sheds some new light on the underlying genetic mechanisms of intellectual disabilities. It outlines the genetic basis of known inherited and sporadic causes that have recently been understood through new molecular advances.
DISCUSSION: General practice has an important role to play in pursuing a precise biomedical diagnosis by improving information provided to the patient and family regarding recurrence risks and prognoses as well as management issues specific to the underlying condition. New molecular techniques are providing us with specific diagnostic tools as well as improving our understanding of the complex mechanisms that contribute to what is known as human intelligence.
OBJECTIVE: This article sheds some new light on the underlying genetic mechanisms of intellectual disabilities. It outlines the genetic basis of known inherited and sporadic causes that have recently been understood through new molecular advances.
DISCUSSION: General practice has an important role to play in pursuing a precise biomedical diagnosis by improving information provided to the patient and family regarding recurrence risks and prognoses as well as management issues specific to the underlying condition. New molecular techniques are providing us with specific diagnostic tools as well as improving our understanding of the complex mechanisms that contribute to what is known as human intelligence.
Предметные рубрики MeSH
ChildChromosome AberrationsChromosome DisordersDiGeorge SyndromeDown SyndromeFemaleFragile X SyndromeGenes, DominantGenes, RecessiveGenetic LinkageGenomic ImprintingHumansIn Situ Hybridization, FluorescenceInfantIntellectual DisabilityKaryotypingMalePrader-Willi SyndromeRubinstein-Taybi SyndromeSex Chromosome AberrationsX Chromosome