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Exam 2 - Pathophysiology ECPI - Chapter 5 Questions and Answers
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Autosomal Dominant Disorders - Answer--Huntington's Disease -Polydactyly -Achondroplasia -Marfan syndrome -Familial hypercholesterolemia Transmission of autosomal dominant disorders % is: - Answer-Transmission of autosomal dominant disorders (50% chance for an affected child). Autosomal R...

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  • October 27, 2024
  • 6
  • 2024/2025
  • Exam (elaborations)
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  • exam 2 pathophysiology ecpi chapter 5 question
  • autosomal dominant disorders answer huntington

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Exam 2 - Pathophysiology ECPI -
Chapter 5 Questions and Answers
Autosomal Dominant Disorders - Answer--Huntington's Disease
-Polydactyly
-Achondroplasia
-Marfan syndrome
-Familial hypercholesterolemia

Transmission of autosomal dominant disorders % is: - Answer-Transmission of
autosomal dominant disorders (50% chance for an affected child).

Autosomal Recessive Disorders - Answer-•Cystic fibrosis
•Hemochromatosis
•Phenylketonuria (PKU)
•Galactosemia
•Sickle cell anemia
•Tay-Sachs
•Albinism

Transmission in parents with two recessive alleles %: - Answer-25% affected; 50%
carrier; 25% unaffected

What happens in Phenylketonuria (PKU) - Answer-PKU - tested after birth - there is an
enzyme block which causes phenylalanine and derivatives to build up which causes
toxicity affecting brain development. Can make dietary changes for normal life.

What is likely to be found in a gene mutation? - Answer-When gene contains mutation,
protein likely to function abnormally or not at all.

Examples of acquired mutations: - Answer-smoking, alcohol, radiation

Sex-Linked Inheritance - Answer-•Duchenne's muscular dystrophy
•Color blindness
•Fragile X syndrome

Familial Disease - Answer-•Consistently appear in families
•Not a single gene, but several genes
•multifactorial

Abnormal Chromosome Diseases - Answer-•Down Syndrome
-Trisomy 21
-Characteristic appearance
-Shortened life span

, -Mental impairment

Sex Anomalies - Answer-•Turner's Syndrome
•Klinefelter's Syndrome
•Hermaphroditism

Genetic Counseling and Diagnosis - Answer-•Diagnosis of Genetic Disease
-Amniocentesis
-Chorionic villus sampling
•Gene Therapy for Genetic Diseases

Autosomal Dominant Inherited Conditions:
-Vertical transmission in families
-Males and females equally affected
-Variable expression among family members and others with condition
-Reduced penetrance (in some conditions)
-Advanced paternal age associated with sporadic cases - Answer-Examples:
-Hereditary breast/ovarian cancer syndrome
-Familial hypercholesterolemia
-Hereditary nonpolyposis colorectal cancer
-Huntington disease
-Marfan syndrome*
-Neurofibromatosis
-*Acrondroplasia

Autosomal Recessive Inherited Conditions:
-Horizontal pattern of transmission seen in families
-Males and females equally affected
Associated with consanguinity (genetic relatedness)
-Associated with particular ethnic groups - Answer-Examples:
-Cystic fibrosis*
-Galactosemia
-Phenylketonuria*
-Sickle cell disease*
-Tay-Sachs disease
-Canavan disease

X-Linked Recessive Inherited Conditions:
-Vertical transmission in families
-Males predominantly affected - Answer-Examples:
Duchenne muscular dystrophy
Hemophilia A and B
Wiskott-Aldrich syndrome
Protan and Deutran forms of color blindness

Sex anomolies:

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