Aneuploidy and Polyploidy Quiz

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Questions and Answers

How many chromosomes does a normal human have?

Which chromosome pair determines the sex of the child?

Pair 23

What is the default sex if the Y chromosome is absent?

Female

Which condition is caused by an extra copy of chromosome 21?

Down Syndrome Signup and view all the answers

Which test can be used to detect chromosomal abnormalities at around 16 weeks of pregnancy?

Amniocentesis Signup and view all the answers

Which chromosomal abnormality is characterized by having an extra X chromosome in females?

Trisomy X Signup and view all the answers

In what percentage of cases does the nondisjunction of chromosomes leading to genetic disorders like Trisomy X occur due to the mother's egg?

90% Signup and view all the answers

Which chromosomal abnormality is characterized by having only one X chromosome and typically occurs in females?

Turner Syndrome Signup and view all the answers

What are some common physical features associated with Turner Syndrome?

Webbing of the neck Signup and view all the answers

What is the average life expectancy for individuals with Trisomy X?

60 years Signup and view all the answers

What genetic condition is characterized by an individual not having a multiple of 23 chromosomes in their somatic cells?

Monosomy Signup and view all the answers

Which chromosomal condition is always lethal when it involves autosomes?

Monosomy Signup and view all the answers

Which chromosomal condition is associated with distinctive facial features, low nasal bridge, epicanthal folds, and protruding tongue?

Down Syndrome Signup and view all the answers

Which of the following is a less serious form of Aneuploidy involving sex chromosomes?

Trisomy X Signup and view all the answers

Which chromosomal condition results from the absence of an X chromosome in females?

Turner Syndrome Signup and view all the answers

Which chromosomal abnormality is known as Trisomy 21?

47, XY, +21 Signup and view all the answers

What is the chromosomal makeup of an individual with Turner Syndrome?

45, X/O Signup and view all the answers

Which genetic disorder has the karyotype XXY?

Klinefelter Syndrome Signup and view all the answers

What is the second most common cause of mental retardation after Down Syndrome?

Fragile X syndrome Signup and view all the answers

What is the estimated frequency of Klinefelter Syndrome among live male births?

1 in 500 Signup and view all the answers

Which genetic disorder is characterized by male appearance, sterile, female-like breasts, small testes, high-pitched voice, and slight mental impairment?

Klinefelter Syndrome Signup and view all the answers

Which chromosome is typically affected in a male who inherits a disease gene and expresses the disease?

X chromosome Signup and view all the answers

Which chromosomal abnormality has the highest chance of spontaneous abortion in the first trimester?

XO Signup and view all the answers

What is a classic symptom/sign of Hemophilia A?

Persistent oozing after minor injuries Signup and view all the answers

What is the main cause of Klinefelter Syndrome?

Maternal nondisjunction of chromosomes Signup and view all the answers

Which diagnostic test is considered a more sensitive version of the Partial thromboplastin time (PTT)?

Activated Partial Thromboplastin Time (aPTT) Signup and view all the answers

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?

Jacobs Syndrome Signup and view all the answers

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?

Cri du Chat Syndrome Signup and view all the answers

About 1/3 of female carriers of Fragile X syndrome are affected, but not as severely as males. What term best describes these females?

Heterozygous Signup and view all the answers

Which genetic disorder is characterized by dementia, chorea (uncontrollable limb movements), and degeneration of basal ganglia and cerebral cortex?

Huntington Disease Signup and view all the answers

What is a common physical characteristic of individuals with achondroplasia?

Curved lower spine Signup and view all the answers

Which of the following is NOT a common feature of achondroplasia?

High muscle tone Signup and view all the answers

What can happen if the neurological impairment caused by achondroplasia is left untreated?

Brainstem compression leading to death Signup and view all the answers

What is a potential cause of neurological impairment in achondroplasia?

Compression due to slow bone growth Signup and view all the answers

Individuals with achondroplasia typically have extra space between which fingers?

Middle and ring finger Signup and view all the answers

Which symptom is NOT associated with achondroplasia?

Abnormally long limbs Signup and view all the answers

What is the main concern of parents and physicians regarding achondroplasia?

Brainstem compression leading to potential death Signup and view all the answers

What genetic mechanism is likely responsible for achondroplasia?

Autosomal recessive inheritance Signup and view all the answers

Inbreeding is mentioned in the text as a factor contributing to which type of genetic disorders?

Achondroplasia Signup and view all the answers

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?

Spinal cord and brain stem Signup and view all the answers

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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