Autosomal Dominant Disorders
Über den Vortrag
Der Vortrag „Autosomal Dominant Disorders“ von Georgina Cornwall, PhD ist Bestandteil des Kurses „Single-Gene Disorders“.
Quiz zum Vortrag
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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Dozent des Vortrages Autosomal Dominant Disorders
Georgina Cornwall, PhD
Dr. Georgina Cornwall is a Biology Instructor and currently works as an Instructional Designer in the private sector, developing interactive online training materials.
She obtained her PhD in Environmental, Population, and Organismic Biology at the University of Colorado, USA, in 2000, and has since taught a broad array of biology courses at various US universities.
She is an active promoter of hybrid/online teaching formats and interactive courses, and has received several awards for her engaging and innovative course design; e.g., she was named Adjunct Faculty of the Year at Colorado Mountain College in Aspen twice.
Within Lecturio, Dr. Cornwall teaches courses on Biology & Genetics.
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