Medicine an Surgery notes

Apr 25th, 2015
Studypool Tutor
Price: $10 USD

Tutor description

Word Count: 353
Showing Page: 1/15
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

Review from student

Studypool Student
" awesome work thanks "
Ask your homework questions. Receive quality answers!

Type your question here (or upload an image)

1831 tutors are online

Brown University





1271 Tutors

California Institute of Technology




2131 Tutors

Carnegie Mellon University




982 Tutors

Columbia University





1256 Tutors

Dartmouth University





2113 Tutors

Emory University





2279 Tutors

Harvard University





599 Tutors

Massachusetts Institute of Technology



2319 Tutors

New York University





1645 Tutors

Notre Dam University





1911 Tutors

Oklahoma University





2122 Tutors

Pennsylvania State University





932 Tutors

Princeton University





1211 Tutors

Stanford University





983 Tutors

University of California





1282 Tutors

Oxford University





123 Tutors

Yale University





2325 Tutors