Podcast
Questions and Answers
What type of chromosomal abnormality involves the loss of a segment of a chromosome?
What type of chromosomal abnormality involves the loss of a segment of a chromosome?
Pseudodominance can occur when a recessive allele behaves like a dominant allele due to the deletion of a masking dominant gene.
Pseudodominance can occur when a recessive allele behaves like a dominant allele due to the deletion of a masking dominant gene.
True
Name the two types of inversions in chromosomal abnormalities.
Name the two types of inversions in chromosomal abnormalities.
Paracentric inversion and Pericentric inversion.
A chromosome segment that is present in more than two copies in the same nucleus is termed __________.
A chromosome segment that is present in more than two copies in the same nucleus is termed __________.
Signup and view all the answers
Which of the following describes a simple translocation?
Which of the following describes a simple translocation?
Signup and view all the answers
Match the following types of structural abnormalities with their definitions:
Match the following types of structural abnormalities with their definitions:
Signup and view all the answers
What is the result of reciprocal translocation?
What is the result of reciprocal translocation?
Signup and view all the answers
Trisomy is a type of structural chromosomal abnormality.
Trisomy is a type of structural chromosomal abnormality.
Signup and view all the answers
Down syndrome is characterized by the presence of an extra copy of chromosome 21.
Down syndrome is characterized by the presence of an extra copy of chromosome 21.
Signup and view all the answers
What is a karyotype?
What is a karyotype?
Signup and view all the answers
What is meant by interstitial deletion?
What is meant by interstitial deletion?
Signup and view all the answers
Klinefelter syndrome occurs in males who have an extra _______ chromosome.
Klinefelter syndrome occurs in males who have an extra _______ chromosome.
Signup and view all the answers
Match the following chromosomal disorders with their characteristics:
Match the following chromosomal disorders with their characteristics:
Signup and view all the answers
Which syndrome is characterized by cognitive delays and hypotonia in infancy?
Which syndrome is characterized by cognitive delays and hypotonia in infancy?
Signup and view all the answers
Ectopic recombination follows the usual recombination process.
Ectopic recombination follows the usual recombination process.
Signup and view all the answers
What is Edwards syndrome characterized by?
What is Edwards syndrome characterized by?
Signup and view all the answers
What is the most common type of Down syndrome?
What is the most common type of Down syndrome?
Signup and view all the answers
Individuals with Down syndrome have an increased risk of developing celiac disease.
Individuals with Down syndrome have an increased risk of developing celiac disease.
Signup and view all the answers
What is a common physical feature of individuals with Down syndrome?
What is a common physical feature of individuals with Down syndrome?
Signup and view all the answers
About 15 percent of people with Down syndrome have an underactive thyroid gland, known as __________.
About 15 percent of people with Down syndrome have an underactive thyroid gland, known as __________.
Signup and view all the answers
Match the following Down syndrome types with their characteristics:
Match the following Down syndrome types with their characteristics:
Signup and view all the answers
What is a risk factor for having a child with Down syndrome?
What is a risk factor for having a child with Down syndrome?
Signup and view all the answers
All individuals with Down syndrome will display all of the same physical characteristics.
All individuals with Down syndrome will display all of the same physical characteristics.
Signup and view all the answers
A common medical condition related to Down syndrome is gastroesophageal __________.
A common medical condition related to Down syndrome is gastroesophageal __________.
Signup and view all the answers
Which syndrome is characterized by an extra copy of the X chromosome in males?
Which syndrome is characterized by an extra copy of the X chromosome in males?
Signup and view all the answers
Turner syndrome can affect individuals who are assigned male at birth.
Turner syndrome can affect individuals who are assigned male at birth.
Signup and view all the answers
What is one common characteristic of Klinefelter syndrome?
What is one common characteristic of Klinefelter syndrome?
Signup and view all the answers
Individuals with Turner syndrome often exhibit a _______ neck due to extra folds of skin.
Individuals with Turner syndrome often exhibit a _______ neck due to extra folds of skin.
Signup and view all the answers
What developmental problem is most commonly associated with Turner syndrome?
What developmental problem is most commonly associated with Turner syndrome?
Signup and view all the answers
Match the following syndromes with their characteristics:
Match the following syndromes with their characteristics:
Signup and view all the answers
Jacobs syndrome typically causes significant physical abnormalities in affected individuals.
Jacobs syndrome typically causes significant physical abnormalities in affected individuals.
Signup and view all the answers
What is the primary sex chromosome composition of individuals with Turner syndrome?
What is the primary sex chromosome composition of individuals with Turner syndrome?
Signup and view all the answers
Which of the following is NOT a symptom associated with XYY syndrome?
Which of the following is NOT a symptom associated with XYY syndrome?
Signup and view all the answers
Individuals with 47,XYY syndrome have lower risks of behavioral and emotional difficulties compared to their peers.
Individuals with 47,XYY syndrome have lower risks of behavioral and emotional difficulties compared to their peers.
Signup and view all the answers
What chromosomal anomaly characterizes Edwards syndrome?
What chromosomal anomaly characterizes Edwards syndrome?
Signup and view all the answers
In full Edwards' syndrome, most babies will die before they are _____.
In full Edwards' syndrome, most babies will die before they are _____.
Signup and view all the answers
Which statement about mosaic Edwards' syndrome is true?
Which statement about mosaic Edwards' syndrome is true?
Signup and view all the answers
Mosaic Edwards' syndrome and partial Edwards' syndrome are the same condition.
Mosaic Edwards' syndrome and partial Edwards' syndrome are the same condition.
Signup and view all the answers
List one abnormality that can be seen in boys with XYY syndrome.
List one abnormality that can be seen in boys with XYY syndrome.
Signup and view all the answers
Match the type of Edwards' syndrome with its description:
Match the type of Edwards' syndrome with its description:
Signup and view all the answers
Which of the following symptoms is NOT associated with Edwards syndrome (trisomy 18)?
Which of the following symptoms is NOT associated with Edwards syndrome (trisomy 18)?
Signup and view all the answers
Edwards syndrome (trisomy 18) is caused by an extra copy of chromosome 13.
Edwards syndrome (trisomy 18) is caused by an extra copy of chromosome 13.
Signup and view all the answers
What is the life expectancy for children diagnosed with Patau syndrome (trisomy 13)?
What is the life expectancy for children diagnosed with Patau syndrome (trisomy 13)?
Signup and view all the answers
Children with Edwards syndrome commonly present with _____ muscle tone.
Children with Edwards syndrome commonly present with _____ muscle tone.
Signup and view all the answers
Match the following conditions with their symptoms:
Match the following conditions with their symptoms:
Signup and view all the answers
What is a potential complication for survivors of Patau syndrome after their first year?
What is a potential complication for survivors of Patau syndrome after their first year?
Signup and view all the answers
Underdeveloped internal organs are a symptom of both Edwards syndrome and Patau syndrome.
Underdeveloped internal organs are a symptom of both Edwards syndrome and Patau syndrome.
Signup and view all the answers
What is one symptom that can be seen during a prenatal ultrasound that indicates Edwards syndrome?
What is one symptom that can be seen during a prenatal ultrasound that indicates Edwards syndrome?
Signup and view all the answers
Study Notes
Chromosomal Aberrations
- Chromosomal abnormalities are categorized into numerical and structural abnormalities.
- Numerical abnormalities involve changes in the number of chromosomes. Examples include trisomy (an extra chromosome) and monosomy (a missing chromosome).
- Structural abnormalities involve changes in the structure of chromosomes. Examples include deficiency (deletion of a chromosome segment), duplication (duplication of a chromosome segment), inversion (rearrangement of a chromosome segment), and translocation (exchange of segments between non-homologous chromosomes).
Numerical Abnormalities
- Aneuploidy involves abnormal chromosome number.
- Hypoploidy is a decrease in the number of chromosomes.
- Hyperploidy is an increase in the number of chromosomes.
- Monoploidy involves only one set of chromosomes.
- Diploidy involves two sets of chromosomes.
- Polyploidy involves more than two sets of chromosomes. (3x, 4x, 5x, etc.).
- Monosomy (2n-1): One chromosome is missing.
- Nullisomy (2n-2): A homologous pair of chromosomes is missing.
- Trisomy (2n+1): An extra chromosome is present.
- Tetrasomy (2n+2): Two extra copies of a chromosome are present.
Structural Abnormalities
- Structural changes involve alterations in the chromosome's structure.
- Deficiency/Deletion: Loss of a chromosome segment.
- Duplication: Addition of a chromosome segment.
- Inversion: A segment of a chromosome is reversed.
- Paracentric inversion(does not include centromere)
- Pericentric inversion(includes centromere)
- Translocation: Part of one chromosome is transferred to another non-homologous chromosome.
- Simple translocation
- Reciprocal translocation
- Types of duplication include: tandem, reverse tandem, displaced homobrachial, displaced heterobrachial, and transposed.
Karyotyping
- Karyotyping is a visual representation of an individual's chromosomes.
- Chromosomes are arranged according to size and the position of the centromere.
- This method is used to identify numerical and structural chromosomal abnormalities.
Case Studies of Chromosomal Aberrations
- Several specific conditions are listed, each with its own chromosomal abnormality.
- These disorders include Down syndrome (trisomy 21), Klinefelter syndrome (XXY), Turner syndrome (XO), Jacobs syndrome (XYY), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13).
- Various physical features, medical problems, and potential life outcomes are associated with each syndrome.
- Down's syndrome symptoms include low ears, upturned eyes, and wide-spaced toes.
Cri-du-Chat Syndrome
- A structural chromosomal abnormality involving a missing part of chromosome 5.
- Characterized by a distinctive cat-like cry in infants.
- Associated with abnormalities in the palate and ears.
Wolf-Hirschhorn Syndrome
- A structural chromosomal abnormality involving a missing part of or damage to chromosome 4.
- Characterized by a distinctive facial appearance, growth delays, and intellectual disability.
Angelman Syndrome
- A neurogenetic disorder caused by a deletion of a part of chromosome 15.
- It is caused by a loss of function of the UBE3A gene in maternally inherited chromosome 15.
- Results in developmental delays, intellectual disability, frequent seizures, and characteristic physical characteristics.
DiGeorge Syndrome
- A disorder caused by a microdeletion on the long arm of chromosome 22.
- Often associated with congenital heart problems, immunological deficiency, and various other issues.
Studying That Suits You
Use AI to generate personalized quizzes and flashcards to suit your learning preferences.
Related Documents
Description
Test your knowledge on chromosomal aberrations, focusing on numerical and structural abnormalities. This quiz will cover key concepts such as aneuploidy, monosomy, and various chromosomal structural changes. Challenge yourself and learn more about genetics!
