14 Questions
What are the possible inheritance patterns for klippel feil syndrome?
Autosomal dominant or recessive
What is the estimated incidence of klippel feil syndrome?
1 in 42,000 births
What are the possible genes involved in klippel feil syndrome?
GDF6, GDF3, or MEOX1
What are the symptoms of Huntington Disease?
Depression, forgetfulness, involuntary movements
What is the inheritance pattern of Huntington Disease?
Autosomal dominant
What is the cause of Huntington Disease?
Mutation in the HTT gene
What is the risk for children with a premutation of the HTT gene?
At risk for developing Huntington Disease
What is the order of appearance of the concepts: inheritance, genes, and DNA?
- Inheritance, 2. Genes, 3. DNA
What is the difference between incomplete penetrance and variable expressivity?
Incomplete penetrance refers to the probability of a genotype/trait being expressed, while variable expressivity refers to the range of symptoms displayed in individuals with the same fully penetrant genotype.
What factors can influence penetrance and expressivity?
Age, gender, environmental risk factors, lifestyle risk factors, modifier genes, and parent of origin (epigenetic) effects can influence penetrance and expressivity.
What is Klippel-Feil Syndrome?
Klippel-Feil Syndrome is a complex syndrome of osseous and visceral anomalies described for the first time in 1912 by Maurice Klippel and Andre Feil. It is characterized by a short, webbed neck and decreased range of motion in the cervical spine.
Who described Klippel-Feil Syndrome for the first time?
Maurice Klippel and Andre Feil.
What are the three main features of Klippel-Feil Syndrome?
Short, webbed neck; decreased range of motion in the cervical spine.
What is the concept of penetrance?
The concept of penetrance refers to the proportion of individuals with a specific genotype who exhibit the associated phenotype.
Test your knowledge on inheritance patterns and genetics in this quiz. Learn how to distinguish between hereditary and congenital disorders, understand Mendelian inheritance patterns, and interpret pedigrees. Demonstrate your understanding of concepts such as penetrance and expressivity.
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