X-linked Recessive Disorders Flashcards
What patterns of inheritance do X-linked recessive disorders carry?
MALES affected, females are carriers. If any females in the past had something then it is NOT x-linked recessive.
Associated with ENZYME DEFICIENCIES.
Hemophilia A/B
X-linked recessive
Factor 8 and 9 enzyme deficiencies
G6PD
X-linked recessive
Chronic Granulomatous Disease
X-linked recessive
Enzyme deficiency of breaking down bacterial cells inside neutrophils
Duchenne Muscular Dystrophy
X-linked recessive, Enzyme deficiency
Nephrogenic DI
X-linked recessive, Enzyme deficiency
Retinitis Pigmentosa
X-linked recessive, Enzyme deficiency
Androgen Insensitivity
X-linked recessive, Enzyme deficiency
Phenotypically female, but genetically male
Wiskott Aldrich Syndrome
X-linked recessive, Enzyme deficiency
Hunter syndrome
X-linked recessive, Enzyme deficiency
For x-linked recessive disorders what are:
- changes of having an affected male child
- changes of having and affected child
Males
50% will be affected
50% will NOT be affected
Females
50% will be carriers
50% will NOT be carriers
Children
25% will be carriers
25% will have the disease
50% will be NORMAL