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Doctor insights on: Pedigree Autosomal Recessive

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What happens if a pedigree shows x linked recessive inheritance does it also show autosomal recessive inheritance?

What happens if a pedigree shows x linked recessive inheritance does it also show autosomal recessive inheritance?

No: X-linked recessive inheritance involves asymptomatic females passing a condition to their sons. An example is hemophilia A and B. Usually only males are affected. Autosomal recessive inheritance affects both sexes equally. Two asymptomatic parents can pass a condition to their children 25% of the time on average. ...Read more

Dr. Maulik Shah
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Is a child with a autosomal recessive disease for sure going to be bad off?

Is a child with a autosomal recessive disease for sure going to be bad off?

Depends on the dz: This all depends on which disease the child has. Some autosomal recessive diseases can be relatively innocuous (e.g., mcardle's syndrome), whereas others can be quite serious (e.g., cystic fibrosis). The classification of "autosomal recessive" describes how the disease is inherited; it does not define the characteristics of the disease itself. ...Read more

Dr. Maulik Shah
Board Certified, Clinical Genetics
18 years in practice
197.0K people helped
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How is autosomal recessive inheritance different?

How is autosomal recessive inheritance different?

Both parents: Autosomal recessive inheritance means that you have to inherit the gene from both parents. Some examples: cystic fibrosis, sickle cell disease. ...Read more

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How can I calculate carrier frequency of autosomal recessive conditions?

How can I calculate carrier frequency of autosomal recessive conditions?

Depends of the gene.: Different genes have different carrier frequency rates. This site refers to the Hardy Weinberg equation. But more information is needed in order to complete the calculation. http://www.perinatology.com/calculators/Hardy-Weinberg.htm ...Read more

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Can you tell me how I could tell whether certain disorders are autosomal recessive, autosomal dominant, or x-linked?

Confusing question: If you are aware of the name of the disorder you can look it up.The NIH website has many such listings. Geneticists begin the process by compiling family trees of affected persons and sorting the issue out over time. ...Read more

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Is autosomal recessive polycystic kidney disease very serious?

Is autosomal recessive polycystic kidney disease very serious?

It is different: It usually is more serious than the autosomal dominant disease since it needs inheritance from both parents to be expressed i.e. Both genes are affected. It accordingly gets expressed at an earlier age in life. The longer duration of polycystic disease is a factor in predicting dialysis need. ...Read more

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Is there a difference between autosomal dominant and autosomal recessive polycystic kidney disease?

Is there a difference between autosomal dominant and autosomal recessive polycystic kidney disease?

Yes: The dominant form occurs mostly in adults. It is inherited but it takes time to show up as a diagnosable disease in middle to later age. Depending on your luck you either have it from your parent or not( 50% chance).The recessive form could be carried by seemingly healthy persons and when manifests as a disease in the offspring, it shows up at a much earlier age. ...Read more

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What are the differences between autosomal dominant and autosomal recessive polycystic kidney disease?

What are the differences between autosomal dominant and autosomal recessive polycystic kidney disease?

Differences: Main differences are---ADPKD shows itself in adults and 1/3 stays silent, 1/3 cause complications like hypertension etc, and 1/3 progress to end stage renal disease. ARPKD --- on the other hand manifests itself in pediatric population, in fact soon after birth, almost always involves kidneys bilaterally and requires dialysis for survival. Good news-- ADPKD is dominant therefore never skips generat ...Read more

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Dr. Maulik Shah
Board Certified, Clinical Genetics
18 years in practice
197.0K people helped
Continue
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