Podcast
Questions and Answers
Which of the following is a key clinical feature of Fragile X syndrome?
Which of the following is a key clinical feature of Fragile X syndrome?
- Skewed X inactivation
- Triple repeats in the FMR1 gene (correct)
- Mitochondrial inheritance
- Genomic imprinting
What is the biologic mechanism responsible for genomic imprinting?
What is the biologic mechanism responsible for genomic imprinting?
- Mitochondrial inheritance
- Triple repeats in the FMR1 gene
- X inactivation
- DNA methylation (correct)
Which disorder is explained by genomic imprinting?
Which disorder is explained by genomic imprinting?
- Fragile X syndrome
- Prader-Willi syndrome (correct)
- Huntington's disease
- Snowman syndrome
How many mechanisms result in Prader-Willi syndrome?
How many mechanisms result in Prader-Willi syndrome?
What is the conceptual basis of analyzing genetic and environmental interaction in the causation of disease?
What is the conceptual basis of analyzing genetic and environmental interaction in the causation of disease?
Which of the following statements about mitochondrial inheritance is true?
Which of the following statements about mitochondrial inheritance is true?
What is the main reason for the high mutation rate of mtDNA compared to nuclear DNA?
What is the main reason for the high mutation rate of mtDNA compared to nuclear DNA?
Why is there variability in phenotype with mitochondrial disorders?
Why is there variability in phenotype with mitochondrial disorders?
Which organs are most often affected by mitochondrial diseases?
Which organs are most often affected by mitochondrial diseases?
What is the main characteristic of germline mosaicism?
What is the main characteristic of germline mosaicism?
Which of the following is true about the incidence of pyloric stenosis in infants?
Which of the following is true about the incidence of pyloric stenosis in infants?
What is the recurrence risk for congenital pyloric stenosis in male probands from London?
What is the recurrence risk for congenital pyloric stenosis in male probands from London?
What is the incidence of infantile autism in third-degree relatives?
What is the incidence of infantile autism in third-degree relatives?
What is the heritability (h2) of alcoholism?
What is the heritability (h2) of alcoholism?
What is the heritability (h2) of height?
What is the heritability (h2) of height?
Which of the following is an example of a non-Mendelian inheritance pattern?
Which of the following is an example of a non-Mendelian inheritance pattern?
What is the main difference between Mendelian and multifactorial inheritance?
What is the main difference between Mendelian and multifactorial inheritance?
Which of the following is an example of a quantitative complex phenotype of a multifactorial disease?
Which of the following is an example of a quantitative complex phenotype of a multifactorial disease?
What is the concept of heritability based on?
What is the concept of heritability based on?
What is the threshold model of multifactorial inheritance?
What is the threshold model of multifactorial inheritance?
Which of the following is true about anticipation in Mendelian disorders?
Which of the following is true about anticipation in Mendelian disorders?
Which of the following trinucleotide repeat diseases is characterized by a CAG repeat in the protein coding region?
Which of the following trinucleotide repeat diseases is characterized by a CAG repeat in the protein coding region?
What is the threshold number of CGG repeats in the Fragile X gene (FMR1) that is considered abnormal and associated with Fragile X syndrome?
What is the threshold number of CGG repeats in the Fragile X gene (FMR1) that is considered abnormal and associated with Fragile X syndrome?
What is the mechanism of loss of gene expression in Prader-Willi Syndrome and Angelman Syndrome?
What is the mechanism of loss of gene expression in Prader-Willi Syndrome and Angelman Syndrome?
Which of the following is true about X chromosome inactivation?
Which of the following is true about X chromosome inactivation?
Which of the following is an example of a triplet repeat disorder?
Which of the following is an example of a triplet repeat disorder?
What is the normal range of trinucleotide repeats in Fragile X syndrome?
What is the normal range of trinucleotide repeats in Fragile X syndrome?
Which of the following disorders is caused by genomic imprinting?
Which of the following disorders is caused by genomic imprinting?
What is the relationship between skewed X inactivation and human disease?
What is the relationship between skewed X inactivation and human disease?
What is the difference between homoplasmy and heteroplasmy in mitochondrial inheritance?
What is the difference between homoplasmy and heteroplasmy in mitochondrial inheritance?
