What is pathophysiology?
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The study of the changes within an organ or within an individual that
accompany a certain disease.
What is expressivity?
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-how pronounced the phenotype will be
-how blood pressure is if you inherit the gene for high blood pressure OR If
you inherit hypercholesterolemia just how high will your cholesterol be?
,Macroorchidism
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large testes; Fragile X syndrome
What does dominant mean?
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an allele will be expressed even if the person has only one copy (one allele
from the mother and a different allele variation from the father)
In Huntington's disease when does neurological decline begin to appear?
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Around age 40
Signs and symptoms of Marfan's Syndrome
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, -Long arms
-Long fingers
-Protruding sternum
-Hypeflexible joints
-Long narrow face
-Small jaw
-Overcrowded teeth
-Cardiac symptoms
How long does it take for Tay Sachs disease to become apparent?
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Babies appear normal for the first few months of life, but then they begin to
miss milestones such as recognizing their parents' voices or turning to look
at their parents
What does recessive mean?
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an allele will only be expressed if the carrier has two of the same gene
What does someone have if they have Polysomy X or Klinefelters?
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The study of the changes within an organ or within an individual that
accompany a certain disease.
What is expressivity?
Give this one a try later!
-how pronounced the phenotype will be
-how blood pressure is if you inherit the gene for high blood pressure OR If
you inherit hypercholesterolemia just how high will your cholesterol be?
,Macroorchidism
Give this one a try later!
large testes; Fragile X syndrome
What does dominant mean?
Give this one a try later!
an allele will be expressed even if the person has only one copy (one allele
from the mother and a different allele variation from the father)
In Huntington's disease when does neurological decline begin to appear?
Give this one a try later!
Around age 40
Signs and symptoms of Marfan's Syndrome
Give this one a try later!
, -Long arms
-Long fingers
-Protruding sternum
-Hypeflexible joints
-Long narrow face
-Small jaw
-Overcrowded teeth
-Cardiac symptoms
How long does it take for Tay Sachs disease to become apparent?
Give this one a try later!
Babies appear normal for the first few months of life, but then they begin to
miss milestones such as recognizing their parents' voices or turning to look
at their parents
What does recessive mean?
Give this one a try later!
an allele will only be expressed if the carrier has two of the same gene
What does someone have if they have Polysomy X or Klinefelters?
