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Kaplan Qbank USMLE



Author2 Posts
  #1

4 sisters in one family,2 childs of 2 of them have brain disease,one son is congenital cretinism,one girl is waterhead that infected when she is very young;the question is, assuming the father's gene was selected randomly from people,can we say that the gene of these sisters has some :?: efections which conduce or make their offspring be inclined to brain disease? If so, is the probability of the offspring of the other 2 sisters becoming head disease sufferer very high? Is there are some xamination can be done to check up these defections before their child birth? thanks.

  #2

I think not only the sister but the entire family tree needs to be seen.If the disease is autosomal(recessive/dominant) or is it some X-linked disease....when the family tree is drawn for a few generations.....a recurring transfer of genetic material pattern can be seen to assess the type of inheritance it is.If no clear cut inheritance pattern is appreciated then this could be a multifactorial disease.

To answer your query regarding prenatal examination,it would depend on what type of disease we're talking about.If the disease is well researched and a clear cut examination/biochemistry tests is available or by karyotyping....then yes it can be diagnosed prenatally.However if the disease is a multifactorial disease then I don't believe it can tell prenatally the baby will have the defect(unless a test is known which clearly detects the genetic disease you're talking about while in the mother's womb like alpha feto protein in neural tube defect).....but it can help the mother to avoid risk factors which cause the defect(take more folic acid).







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