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Questions and Answers
What is the approximate incidence of Klinefelter syndrome in males?
What is the approximate incidence of Klinefelter syndrome in males?
- 1 in 200
- 1 in 500 (correct)
- 1 in 1000
- 1 in 100
What is the most common causative event of Klinefelter syndrome?
What is the most common causative event of Klinefelter syndrome?
- Nondisjunction of the YY homologues
- Nondisjunction of the XX homologues (correct)
- Mitotic nondisjunction resulting in mosaicism
- Structural abnormalities of the X chromosome
What is the characteristic feature of Turner syndrome?
What is the characteristic feature of Turner syndrome?
- Tall stature and absence of ovaries
- Short stature and absence of ovaries (correct)
- Mental retardation and absence of ovaries
- Webbed neck and presence of ovaries
What is the percentage of affected women who are monosomic for the X and chromatin body negative?
What is the percentage of affected women who are monosomic for the X and chromatin body negative?
What is the cause of breaks in chromosomes that can lead to structural abnormalities?
What is the cause of breaks in chromosomes that can lead to structural abnormalities?
What is the fate of most fetuses with Turner syndrome?
What is the fate of most fetuses with Turner syndrome?
What is the percentage of conceptuses that have major chromosomal abnormalities?
What is the percentage of conceptuses that have major chromosomal abnormalities?
What is the term for the phenomenon where some cells of an embryo have a normal number of chromosomes and others have an abnormal number?
What is the term for the phenomenon where some cells of an embryo have a normal number of chromosomes and others have an abnormal number?
During meiosis, what is the result of nondisjunction in one cell?
During meiosis, what is the result of nondisjunction in one cell?
What is the term for a chromosome number that is not an exact multiple of n?
What is the term for a chromosome number that is not an exact multiple of n?
What is the result of a translocation where no critical material is lost?
What is the result of a translocation where no critical material is lost?
At what age do the frequency of nondisjunction in women particularly increase?
At what age do the frequency of nondisjunction in women particularly increase?
What is the result of partial deletion of the short arm of chromosome 5?
What is the result of partial deletion of the short arm of chromosome 5?
What percentage of human malformations are estimated to be caused by single gene mutations?
What percentage of human malformations are estimated to be caused by single gene mutations?
What is the term for a mutation that requires two abnormal alleles to produce an abnormality?
What is the term for a mutation that requires two abnormal alleles to produce an abnormality?
What is the result of a microdeletion of the long arm of chromosome 15?
What is the result of a microdeletion of the long arm of chromosome 15?
What type of mutation can result in inborn errors of metabolism?
What type of mutation can result in inborn errors of metabolism?
What is the term for a mutation that can produce an abnormality in a single dose?
What is the term for a mutation that can produce an abnormality in a single dose?
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