L1 SAQ Inheritance Patterns and Genetics Quiz

Autosomal dominant or recessive

1 in 42,000 births

GDF6, GDF3, or MEOX1

<p>Depression, forgetfulness, involuntary movements</p> Signup and view all the answers

<p>Autosomal dominant</p> Signup and view all the answers

<p>Mutation in the HTT gene</p> Signup and view all the answers

<p>At risk for developing Huntington Disease</p> Signup and view all the answers

<ol> <li>Inheritance, 2. Genes, 3. DNA</li> </ol> Signup and view all the answers

<p>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.</p> Signup and view all the answers

<p>Age, gender, environmental risk factors, lifestyle risk factors, modifier genes, and parent of origin (epigenetic) effects can influence penetrance and expressivity.</p> Signup and view all the answers

<p>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.</p> Signup and view all the answers

<p>Maurice Klippel and Andre Feil.</p> Signup and view all the answers

<p>Short, webbed neck; decreased range of motion in the cervical spine.</p> Signup and view all the answers

<p>The concept of penetrance refers to the proportion of individuals with a specific genotype who exhibit the associated phenotype.</p> Signup and view all the answers