Genetics Class: Chromosomal Abnormalities Quiz
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Questions and Answers

What is the chromosomal configuration of Turner syndrome?

  • XXX
  • XY
  • XO (correct)
  • XXY

Which of the following is a common characteristic of individuals with Turner syndrome?

  • Increased muscle mass
  • Tall stature
  • Infertility (correct)
  • Unique facial features

What does the term 'Trisomy X' refer to?

  • A male with a missing X chromosome
  • A male with an extra Y chromosome
  • A female with two X chromosomes
  • A female with three X chromosomes (correct)

How does Trisomy X generally affect an individual's physical attributes?

<p>Results in no unique physical attributes (B)</p> Signup and view all the answers

What might be a consequence of having an extra X chromosome in females?

<p>Difficulty getting pregnant (A)</p> Signup and view all the answers

What is the typical number of chromosomes in a somatic human cell?

<p>46 chromosomes (A)</p> Signup and view all the answers

What chromosomal configuration represents a male?

<p>XY (A)</p> Signup and view all the answers

What is the outcome of nondisjunction during cell division?

<p>Aneuploidy (D)</p> Signup and view all the answers

Which of the following describes trisomy?

<p>3 copies of the chromosome (D)</p> Signup and view all the answers

In which type of gamete production does nondisjunction occur more frequently?

<p>Egg formation (D)</p> Signup and view all the answers

What is the primary characteristic of Klinefelter syndrome?

<p>Characteristic female secondary sexual traits (A), Presence of an extra X chromosome (C)</p> Signup and view all the answers

How is Turner syndrome characterized?

<p>One normal X chromosome and absence of the second X chromosome (B)</p> Signup and view all the answers

Which of the following symptoms is NOT associated with Klinefelter syndrome?

<p>Excessive testosterone levels (A)</p> Signup and view all the answers

What is a common physical trait among individuals with Klinefelter syndrome?

<p>Developed breast tissue (B)</p> Signup and view all the answers

Which of the following describes a numerical chromosomal abnormality?

<p>An atypical number of chromosomes in cells (B)</p> Signup and view all the answers

What type of chromosomal abnormality is Edwards Syndrome associated with?

<p>Trisomy 18 (D)</p> Signup and view all the answers

Which of the following physical features is commonly associated with Edwards Syndrome?

<p>Low-set ears (C)</p> Signup and view all the answers

What is a common outcome for infants with Patau Syndrome?

<p>Usually die in infancy (B)</p> Signup and view all the answers

Patau Syndrome primarily affects which of the following systems?

<p>Heart, eyes, brain, and spinal cord (B)</p> Signup and view all the answers

Which syndrome is characterized by severe problems with organs and severe intellectual disabilities?

<p>Edwards Syndrome (B)</p> Signup and view all the answers

What is the definition of deletion in the context of chromosomal abnormalities?

<p>A break in a chromosome resulting in the loss of an end piece or internal segment. (A)</p> Signup and view all the answers

Which of the following best describes duplication in chromosomal abnormalities?

<p>A chromosome segment is repeated, resulting in extra alleles for a trait. (A)</p> Signup and view all the answers

What characterizes a translocation in structural chromosomal abnormalities?

<p>An exchange of chromosome segments between two non-homologous chromosomes. (D)</p> Signup and view all the answers

Which syndrome is caused by a deletion on chromosome 5?

<p>Cri du chat syndrome. (B)</p> Signup and view all the answers

What is a common physical characteristic of boys with Jacobs syndrome (XYY)?

<p>Chronic acne (D)</p> Signup and view all the answers

Which condition is associated with the presence of an extra chromosome 21?

<p>Down syndrome (C)</p> Signup and view all the answers

Which of the following abnormalities involves reversing a segment of a chromosome?

<p>Inversion. (D)</p> Signup and view all the answers

What mental health issue can be associated with Jacobs syndrome (XYY)?

<p>Learning disabilities (B)</p> Signup and view all the answers

What percentage of children with Down syndrome exhibit congenital heart problems?

<p>75% (A)</p> Signup and view all the answers

Which statement about the IQ range for XYY individuals is true?

<p>It is the same as that of XY men. (B)</p> Signup and view all the answers

What type of chromosomal abnormality is primarily associated with Translocation Down syndrome?

<p>Translocation of chromosome 21 to chromosome 14 (B)</p> Signup and view all the answers

Which of the following is a characteristic feature of Williams syndrome?

<p>Deletion of part of chromosome 7 (A)</p> Signup and view all the answers

What percentage of individuals with Down syndrome have Translocation Down syndrome?

<p>5% (D)</p> Signup and view all the answers

What is one of the cognitive characteristics commonly associated with Williams syndrome?

<p>Excellent musical abilities (D)</p> Signup and view all the answers

Which physical feature is characteristic of individuals with Williams syndrome?

<p>Turned-up nose (B)</p> Signup and view all the answers

Flashcards

Nondisjunction

The failure of homologous chromosomes or sister chromatids to separate during cell division (meiosis).

Aneuploidy

An abnormal number of chromosomes in a cell, caused by nondisjunction.

Trisomy

A genetic condition where there are three copies of a particular chromosome instead of the usual two.

Monosomy

A genetic condition where there is only one copy of a particular chromosome instead of the usual two.

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Gamete

A reproductive cell (sperm or egg) that contains half the number of chromosomes as a normal body cell.

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Numerical Abnormality

A change in the number of chromosomes in a cell. This can be due to missing or extra chromosomes.

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Klinefelter Syndrome

A genetic condition in males with an extra X chromosome (XXY). Individuals with this condition have underdeveloped male characteristics.

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Turner Syndrome

A genetic condition in females with a missing or altered X chromosome. Individuals with this condition have underdeveloped female characteristics.

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Sterile Male

A male who is unable to produce offspring due to a lack of functional sperm.

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Secondary Sex Characteristics

Physical features that develop during puberty and are not directly involved in reproduction. Examples include breast development in females and facial hair in males.

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Turner Syndrome: Sterility

Individuals with Turner syndrome are usually infertile because of the missing X chromosome.

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Turner Syndrome: Physical Features

Common physical characteristics of Turner syndrome include short stature, a broad chest, and a 'webbed' neck.

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Trisomy X: Potential Complications

Individuals with Trisomy X may experience developmental delays, learning disabilities, and sometimes difficulty getting pregnant.

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Jacobs syndrome

A genetic condition in males caused by an extra Y chromosome (XYY). Individuals with this syndrome are typically tall and may experience learning disabilities or behavioral challenges.

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Down syndrome

A genetic disorder caused by an extra copy of chromosome 21 (Trisomy 21). It is characterized by mental impairment, unique facial features, and an increased risk of heart problems.

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Prevalence of Down syndrome

The likelihood of a child being born with Down syndrome increases significantly as the mother's age increases, particularly over 40. The prevalence is roughly 1 in 80 pregnancies for women over 40.

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Karyotype

A visual representation of an individual's chromosomes, arranged in pairs based on size and shape, used to identify chromosomal abnormalities.

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Autosomes

Chromosomes that are not sex chromosomes (X and Y). Humans have 22 pairs of autosomes.

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Structural Chromosomal Abnormality

A change in the structure of a chromosome, such as a deletion, duplication, translocation, or inversion.

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Deletion

A type of structural chromosomal abnormality where a part of a chromosome is lost.

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Duplication

A type of structural chromosomal abnormality where a segment of a chromosome is repeated.

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Translocation

A type of structural chromosomal abnormality where a segment of a chromosome is exchanged with a segment from a different chromosome.

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Inversion

A type of structural chromosomal abnormality where a segment of a chromosome is flipped 180 degrees.

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Edwards Syndrome

A genetic disorder caused by an extra copy of chromosome 18, leading to severe developmental problems, usually resulting in death in infancy.

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Patau Syndrome

A genetic disorder caused by an extra copy of chromosome 13, leading to severe physical abnormalities and developmental delays, usually resulting in death in infancy.

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Chromosomal Abnormalities

Conditions resulting from an abnormal number of chromosomes, such as missing or extra autosomes, leading to developmental problems and often severe health complications.

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Translocation Down Syndrome

A form of Down syndrome caused by a transfer of genetic material from chromosome 21 to chromosome 14. This results in an extra copy of a portion of chromosome 21, leading to the characteristic features of Down syndrome.

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Williams Syndrome

A genetic disorder caused by a missing portion of chromosome 7. It can affect physical development, cognitive abilities, and health.

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What is unique about the features of Williams Syndrome?

Individuals with Williams Syndrome often exhibit unique facial characteristics, including a turned-up nose, wide mouth, small chin, and large ears.

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What are some challenges for individuals with Williams Syndrome?

Williams Syndrome can result in poor academic skills, cardiovascular problems, and premature aging of the skin.

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What are some strengths of individuals with Williams Syndrome?

Individuals with Williams Syndrome often demonstrate excellent verbal and musical abilities.

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