Podcast
Questions and Answers
How many chromosomes does a normal human have?
How many chromosomes does a normal human have?
- 50
- 44
- 46 (correct)
- 23
Which chromosome pair determines the sex of the child?
Which chromosome pair determines the sex of the child?
- Pair 21
- Pair 15
- Pair 23 (correct)
- Pair 10
What is the default sex if the Y chromosome is absent?
What is the default sex if the Y chromosome is absent?
- Male
- Intersex
- Female (correct)
- Unidentified
Which condition is caused by an extra copy of chromosome 21?
Which condition is caused by an extra copy of chromosome 21?
Which test can be used to detect chromosomal abnormalities at around 16 weeks of pregnancy?
Which test can be used to detect chromosomal abnormalities at around 16 weeks of pregnancy?
Which chromosomal abnormality is characterized by having an extra X chromosome in females?
Which chromosomal abnormality is characterized by having an extra X chromosome in females?
In what percentage of cases does the nondisjunction of chromosomes leading to genetic disorders like Trisomy X occur due to the mother's egg?
In what percentage of cases does the nondisjunction of chromosomes leading to genetic disorders like Trisomy X occur due to the mother's egg?
Which chromosomal abnormality is characterized by having only one X chromosome and typically occurs in females?
Which chromosomal abnormality is characterized by having only one X chromosome and typically occurs in females?
What are some common physical features associated with Turner Syndrome?
What are some common physical features associated with Turner Syndrome?
What is the average life expectancy for individuals with Trisomy X?
What is the average life expectancy for individuals with Trisomy X?
What genetic condition is characterized by an individual not having a multiple of 23 chromosomes in their somatic cells?
What genetic condition is characterized by an individual not having a multiple of 23 chromosomes in their somatic cells?
Which chromosomal condition is always lethal when it involves autosomes?
Which chromosomal condition is always lethal when it involves autosomes?
Which chromosomal condition is associated with distinctive facial features, low nasal bridge, epicanthal folds, and protruding tongue?
Which chromosomal condition is associated with distinctive facial features, low nasal bridge, epicanthal folds, and protruding tongue?
Which of the following is a less serious form of Aneuploidy involving sex chromosomes?
Which of the following is a less serious form of Aneuploidy involving sex chromosomes?
Which chromosomal condition results from the absence of an X chromosome in females?
Which chromosomal condition results from the absence of an X chromosome in females?
Which chromosomal abnormality is known as Trisomy 21?
Which chromosomal abnormality is known as Trisomy 21?
What is the chromosomal makeup of an individual with Turner Syndrome?
What is the chromosomal makeup of an individual with Turner Syndrome?
Which genetic disorder has the karyotype XXY?
Which genetic disorder has the karyotype XXY?
What is the second most common cause of mental retardation after Down Syndrome?
What is the second most common cause of mental retardation after Down Syndrome?
What is the estimated frequency of Klinefelter Syndrome among live male births?
What is the estimated frequency of Klinefelter Syndrome among live male births?
Which genetic disorder is characterized by male appearance, sterile, female-like breasts, small testes, high-pitched voice, and slight mental impairment?
Which genetic disorder is characterized by male appearance, sterile, female-like breasts, small testes, high-pitched voice, and slight mental impairment?
Which chromosome is typically affected in a male who inherits a disease gene and expresses the disease?
Which chromosome is typically affected in a male who inherits a disease gene and expresses the disease?
Which chromosomal abnormality has the highest chance of spontaneous abortion in the first trimester?
Which chromosomal abnormality has the highest chance of spontaneous abortion in the first trimester?
What is a classic symptom/sign of Hemophilia A?
What is a classic symptom/sign of Hemophilia A?
What is the main cause of Klinefelter Syndrome?
What is the main cause of Klinefelter Syndrome?
Which diagnostic test is considered a more sensitive version of the Partial thromboplastin time (PTT)?
Which diagnostic test is considered a more sensitive version of the Partial thromboplastin time (PTT)?
Which chromosomal condition is also known as 47, XYY syndrome and is characterized by taller-than-average stature and behavioral issues like impulse control problems?
Which chromosomal condition is also known as 47, XYY syndrome and is characterized by taller-than-average stature and behavioral issues like impulse control problems?
Which genetic disorder is caused by deletion of the short arm of chromosome 5 and is characterized by low birth weight, smaller head size, mental retardation, and heart defects?
Which genetic disorder is caused by deletion of the short arm of chromosome 5 and is characterized by low birth weight, smaller head size, mental retardation, and heart defects?
About 1/3 of female carriers of Fragile X syndrome are affected, but not as severely as males. What term best describes these females?
About 1/3 of female carriers of Fragile X syndrome are affected, but not as severely as males. What term best describes these females?
Which genetic disorder is characterized by dementia, chorea (uncontrollable limb movements), and degeneration of basal ganglia and cerebral cortex?
Which genetic disorder is characterized by dementia, chorea (uncontrollable limb movements), and degeneration of basal ganglia and cerebral cortex?
What is a common physical characteristic of individuals with achondroplasia?
What is a common physical characteristic of individuals with achondroplasia?
Which of the following is NOT a common feature of achondroplasia?
Which of the following is NOT a common feature of achondroplasia?
What can happen if the neurological impairment caused by achondroplasia is left untreated?
What can happen if the neurological impairment caused by achondroplasia is left untreated?
What is a potential cause of neurological impairment in achondroplasia?
What is a potential cause of neurological impairment in achondroplasia?
Individuals with achondroplasia typically have extra space between which fingers?
Individuals with achondroplasia typically have extra space between which fingers?
Which symptom is NOT associated with achondroplasia?
Which symptom is NOT associated with achondroplasia?
What is the main concern of parents and physicians regarding achondroplasia?
What is the main concern of parents and physicians regarding achondroplasia?
What genetic mechanism is likely responsible for achondroplasia?
What genetic mechanism is likely responsible for achondroplasia?
Inbreeding is mentioned in the text as a factor contributing to which type of genetic disorders?
Inbreeding is mentioned in the text as a factor contributing to which type of genetic disorders?
Arrested bone growth at the base of the skull and spine can result in compression of which part of the body in children with achondroplasia?
Arrested bone growth at the base of the skull and spine can result in compression of which part of the body in children with achondroplasia?
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Study Notes
Human Chromosomes and Genetic Disorders
- Humans have 46 chromosomes in 23 pairs.
Sex Determination
- Chromosome pair 23 determines the sex of a child.
- In the absence of a Y chromosome, the default sex is female.
Chromosomal Abnormalities
- An extra copy of chromosome 21 causes Down syndrome.
- An extra X chromosome in females is known as Trisomy X.
- Only one X chromosome in females is known as Turner Syndrome.
- 45,X is the chromosomal makeup of an individual with Turner Syndrome.
- Trisomy 21 is also known as Down syndrome.
- Klinefelter Syndrome has the karyotype XXY.
- The absence of an X chromosome in females is known as Turner Syndrome.
Characteristics of Genetic Disorders
- Physical features of Turner Syndrome include short stature, broad chest, and widely spaced nipples.
- The average life expectancy for individuals with Trisomy X is normal.
- Mosaicism is a genetic condition characterized by not having a multiple of 23 chromosomes in somatic cells.
- Autosomal abnormalities are always lethal.
- Down syndrome is characterized by distinctive facial features, low nasal bridge, epicanthal folds, and protruding tongue.
- Klinefelter Syndrome is a less serious form of aneuploidy involving sex chromosomes.
- The second most common cause of mental retardation after Down syndrome is Fragile X syndrome.
- The estimated frequency of Klinefelter Syndrome among live male births is 1 in 1000.
Genetic Disorders and Characteristics
- Klinefelter Syndrome is characterized by male appearance, sterile, female-like breasts, small testes, high-pitched voice, and slight mental impairment.
- In a male who inherits a disease gene and expresses the disease, the Y chromosome is typically affected.
- Hemophilia A is characterized by a classic symptom/sign of prolonged bleeding.
- The main cause of Klinefelter Syndrome is nondisjunction of chromosomes during meiosis.
- 47, XYY syndrome is characterized by taller-than-average stature and behavioral issues like impulse control problems.
- Cri-du-chat syndrome is caused by deletion of the short arm of chromosome 5 and is characterized by low birth weight, smaller head size, mental retardation, and heart defects.
- Female carriers of Fragile X syndrome are affected, but not as severely as males, and are known as carriers.
- Huntington's disease is characterized by dementia, chorea (uncontrollable limb movements), and degeneration of basal ganglia and cerebral cortex.
Achondroplasia
- Achondroplasia is characterized by short-limbed dwarfism, low birth weight, and mental retardation.
- A common physical characteristic of individuals with achondroplasia is short stature.
- A common feature of achondroplasia is extra space between the middle and ring fingers.
- If neurological impairment caused by achondroplasia is left untreated, it can lead to respiratory failure.
- A potential cause of neurological impairment in achondroplasia is arrested bone growth at the base of the skull and spine, which can cause compression of the spinal cord.
- The main concern of parents and physicians regarding achondroplasia is the risk of respiratory failure.
- Achondroplasia is likely caused by a mutation in the FGFR3 gene.
Inbreeding and Genetic Disorders
- Inbreeding is mentioned as a factor contributing to autosomal recessive disorders.
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