Medicine an Surgery notes

Apr 25th, 2015
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Genetic disorders in childrenDr kibaruTHE BURDEN OF GENETICDISORDERS IN CHILDHOOD.genetic disorders can presentat any agesomeof the most obvious andsevere diseases begin inchildhood.The majority of chronicdiseases in children has anobvious genetic componentor is influenced by genetic susceptibility.34% of deaths of hospitalizedchildren are associated with anunderlying genetic disorder. Majorcategories of geneticdisorders in children includesingle geneChromosomal multifactorial conditions.single-gene disordersare rare individually, but collectivelythey represent an importantcontribution to childhood disease.Theyinclude disorders such as sicklecell anemia and cystic fibrosisSingle-gene disorders tend tooccur when mutations have aprofound effect on function of thegene product.The phenotypes associated with single-genedisorders can be variable and modified by theaction of other genes or the environment.The hallmark of a single-gene disorder is thatthe phenotype is overwhelmingly determined bymutation in an individual gene.Single-gene disorders may occur sporadically,owing to new mutations (mainly true fordominant disorders) many are seen with increased frequency inspecific populationsChromosomal disorderssuch as Down syndrome are associated with thepresence of an extra copy (trisomy) of chromosome21Only a few trisomies are compatible with live

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