Autosomal Dominant Disorders
About the Lecture
The lecture Autosomal Dominant Disorders by Georgina Cornwall, PhD is from the course Single-Gene Disorders.
Included Quiz Questions
What is the likely reason that autosomal dominant disorders do not get selected out and persist in the population?
- Most of these disorders do not manifest until after puberty making it easy for the gene to be passed to the next generation.
- Most of these disorders are diagnosed in childhood and the patients receive better care.
- Most autosomal dominant disorders need two copies of the gene to manifest so carriers can transfer the genes unknowingly.
- Most autosomal dominant disorders are passed to the next generation via maternal mitochondrial inheritance so all progeny receive a copy of the affected gene.
- Genomic imprinting only allows the affected gene to be transferred inside the gamete.
A twenty-eight-year-old female presents to the emergency department, for the third time, with acute onset of abdominal pain. Each time the physical exam and imaging workup has been negative. Which of the following should the clinician include on their differential diagnosis?
- Acute intermitent porphyria
- Neurofibromatosis-1
- Marfan syndrome
- Huntington disease
- Familial hypercholesterolemia
Which of the following disorders is characterized by noncancerous tumors that manifest in nerves and skin?
- Neurofibromatosis-1
- Huntington's disease
- Marfan syndrome
- Acute intermittent porphyria
- Polycystic kidney disease
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Author of lecture Autosomal Dominant Disorders
Georgina Cornwall, PhD
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