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Questions and Answers
Which condition is most likely to result from X chromosome monosomy?
Which condition is most likely to result from X chromosome monosomy?
- Down syndrome
- Turner syndrome (correct)
- Fragile X syndrome
- Klinefelter syndrome
What is the karyotype for a male with Down syndrome?
What is the karyotype for a male with Down syndrome?
- 46, XY, +21
- 47, XX, +21
- 46, XY, +18
- 47, XY, +21 (correct)
Which best describes mixoploidy?
Which best describes mixoploidy?
- Presence of genetically different cell lineages within one individual (correct)
- Presence of extra chromosomes in diploid cells
- The presence of a Y chromosome in a female
- Absence of a single homologous chromosome
How does mosaic Down syndrome occur?
How does mosaic Down syndrome occur?
Which type of structural aberration occurs when a segment of one chromosome is inserted into another chromosome?
Which type of structural aberration occurs when a segment of one chromosome is inserted into another chromosome?
What condition can result from the fusion of two different zygotes from double fertilization?
What condition can result from the fusion of two different zygotes from double fertilization?
What characterizes balanced rearrangements in structural aberrations?
What characterizes balanced rearrangements in structural aberrations?
Which feature is NOT typically associated with Turner syndrome?
Which feature is NOT typically associated with Turner syndrome?
What characterizes the karyotype of an individual with Klinefelter syndrome?
What characterizes the karyotype of an individual with Klinefelter syndrome?
What is the primary outcome of a deletion that involves loss of more than 2% of the total haploid genome?
What is the primary outcome of a deletion that involves loss of more than 2% of the total haploid genome?
Which statement correctly defines monosomy?
Which statement correctly defines monosomy?
What occurs during a reciprocal translocation?
What occurs during a reciprocal translocation?
In which situation would a karyotyping method most likely be used?
In which situation would a karyotyping method most likely be used?
Which structural aberration is likely to produce serious clinical effects due to an incorrect amount of chromosome material?
Which structural aberration is likely to produce serious clinical effects due to an incorrect amount of chromosome material?
Which condition is typically associated with a karyotype of 47, XX, +21?
Which condition is typically associated with a karyotype of 47, XX, +21?
Which of the following describes a condition where there is an entire extra set of chromosomes?
Which of the following describes a condition where there is an entire extra set of chromosomes?
Which scenario is most likely to result in triploidy?
Which scenario is most likely to result in triploidy?
Which of the following is true about aneuploidy concerning sex chromosomes compared to autosomes?
Which of the following is true about aneuploidy concerning sex chromosomes compared to autosomes?
What is a known cause of aneuploidy linked to maternal age?
What is a known cause of aneuploidy linked to maternal age?
Which karyotype would represent a typical condition of tetraploidy?
Which karyotype would represent a typical condition of tetraploidy?
Which of the following abnormalities is most likely associated with loss of a single chromosome?
Which of the following abnormalities is most likely associated with loss of a single chromosome?
What is the primary consequence of anaphase lag during cell division?
What is the primary consequence of anaphase lag during cell division?
In which condition do the resulting cells have an abnormal chromosome number due to the addition of an extra chromosome?
In which condition do the resulting cells have an abnormal chromosome number due to the addition of an extra chromosome?
What commonly leads to a triploid condition in a zygote?
What commonly leads to a triploid condition in a zygote?
What is the characteristic feature of balanced karyotypes?
What is the characteristic feature of balanced karyotypes?
What is the primary purpose of staining chromosomes during karyotyping?
What is the primary purpose of staining chromosomes during karyotyping?
Which statement accurately describes the karyotype formula for a normal male?
Which statement accurately describes the karyotype formula for a normal male?
In G-banding, which regions of DNA appear more darkly stained?
In G-banding, which regions of DNA appear more darkly stained?
What would be the karyotype formula representation of a trisomy involving chromosome 8 in a female?
What would be the karyotype formula representation of a trisomy involving chromosome 8 in a female?
What type of specimen is commonly used for karyotyping in cancer diagnoses?
What type of specimen is commonly used for karyotyping in cancer diagnoses?
Which technique is NOT typically used for banding during karyotyping?
Which technique is NOT typically used for banding during karyotyping?
What is indicated by a karyotype formula that includes a ‘-’ sign?
What is indicated by a karyotype formula that includes a ‘-’ sign?
Which chromosome banding technique is particularly useful for analyzing chromosomes under a light microscope?
Which chromosome banding technique is particularly useful for analyzing chromosomes under a light microscope?
Which of the following statements is true regarding X-linked dominant inheritance?
Which of the following statements is true regarding X-linked dominant inheritance?
In X-linked hypophosphatemia, which characteristic differentiates males from females?
In X-linked hypophosphatemia, which characteristic differentiates males from females?
Which of the following accurately describes Y-linked inheritance?
Which of the following accurately describes Y-linked inheritance?
What is a common result of deletions in Y chromosome genes?
What is a common result of deletions in Y chromosome genes?
Which statement about karyotyping is correct?
Which statement about karyotyping is correct?
Why do females often exhibit less severe symptoms in X-linked dominant disorders?
Why do females often exhibit less severe symptoms in X-linked dominant disorders?
Which of the following conditions does NOT exemplify Y-linked inheritance?
Which of the following conditions does NOT exemplify Y-linked inheritance?
What distinguishes an X-linked dominant disorder from an X-linked recessive disorder?
What distinguishes an X-linked dominant disorder from an X-linked recessive disorder?
In families with X-linked dominant disorders, which outcome is typical?
In families with X-linked dominant disorders, which outcome is typical?
How does X chromosome inactivation impact the expression of X-linked traits in females?
How does X chromosome inactivation impact the expression of X-linked traits in females?
What is the expected chromosomal composition in a triploid individual?
What is the expected chromosomal composition in a triploid individual?
Which of the following best characterizes aneuploidy?
Which of the following best characterizes aneuploidy?
What is a common outcome associated with tetraploidy?
What is a common outcome associated with tetraploidy?
Which statement regarding non-disjunction and its outcomes is accurate?
Which statement regarding non-disjunction and its outcomes is accurate?
How is triploidy most commonly caused?
How is triploidy most commonly caused?
What is a characteristic feature of X-linked recessive inheritance?
What is a characteristic feature of X-linked recessive inheritance?
In a family where the father is affected by an X-linked recessive disorder, what is the probability that his daughter will be a carrier?
In a family where the father is affected by an X-linked recessive disorder, what is the probability that his daughter will be a carrier?
What is the recurrence risk for sons of a carrier female for an X-linked recessive disorder?
What is the recurrence risk for sons of a carrier female for an X-linked recessive disorder?
Which of the following statements is true regarding X-linked disorders like Duchenne muscular dystrophy?
Which of the following statements is true regarding X-linked disorders like Duchenne muscular dystrophy?
How do affected males typically contribute to the transmission of X-linked recessive disorders?
How do affected males typically contribute to the transmission of X-linked recessive disorders?
What is a characteristic of autosomal dominant (AD) inheritance concerning affected individuals?
What is a characteristic of autosomal dominant (AD) inheritance concerning affected individuals?
Which of the following is true regarding the transmission of autosomal dominant traits?
Which of the following is true regarding the transmission of autosomal dominant traits?
What role does a pedigree serve in genetic studies?
What role does a pedigree serve in genetic studies?
How are autosomal dominant traits typically manifested in individuals?
How are autosomal dominant traits typically manifested in individuals?
What is a common characteristic of traits that follow non-Mendelian inheritance patterns?
What is a common characteristic of traits that follow non-Mendelian inheritance patterns?
What is the primary difference between mosaic Down syndrome and standard Down syndrome?
What is the primary difference between mosaic Down syndrome and standard Down syndrome?
Which of the following best describes how chimeric embryos are formed?
Which of the following best describes how chimeric embryos are formed?
What does the karyotype (45, X) indicate about an individual?
What does the karyotype (45, X) indicate about an individual?
Which scenario describes mixoploidy involving mosaicism?
Which scenario describes mixoploidy involving mosaicism?
What is a common characteristic of individuals with Turner syndrome?
What is a common characteristic of individuals with Turner syndrome?
Flashcards
Karyotyping
Karyotyping
A technique to detect large-scale genetic changes in chromosomes.
Mitotic cells
Mitotic cells
Cells arrested at metaphase/prometaphase of cell cycle for karyotyping.
Chromosome banding
Chromosome banding
Techniques like G-banding to visually differentiate chromosome regions.
G-banding
G-banding
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Karyotype formula
Karyotype formula
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Numerical aberration
Numerical aberration
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Structural aberration
Structural aberration
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ISCN
ISCN
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Euploidy
Euploidy
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Polyploidy
Polyploidy
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Triploidy
Triploidy
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Tetraploidy
Tetraploidy
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Aneuploidy
Aneuploidy
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Non-disjunction
Non-disjunction
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Anaphase lag
Anaphase lag
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Balanced Karyotype
Balanced Karyotype
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Unbalanced Karyotype
Unbalanced Karyotype
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Phenotype
Phenotype
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Trisomy
Trisomy
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Monosomy
Monosomy
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Down Syndrome Karyotype
Down Syndrome Karyotype
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Turner Syndrome Karyotype
Turner Syndrome Karyotype
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Mixoploidy
Mixoploidy
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Mosaicism
Mosaicism
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Chimerism
Chimerism
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Mosaic Down Syndrome
Mosaic Down Syndrome
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Dispermic Chimeras
Dispermic Chimeras
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True Hermaphroditism
True Hermaphroditism
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What are structural aberrations?
What are structural aberrations?
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Balanced rearrangement
Balanced rearrangement
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Unbalanced rearrangement
Unbalanced rearrangement
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Deletion (del)
Deletion (del)
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Translocation
Translocation
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X-Linked Dominant Inheritance
X-Linked Dominant Inheritance
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How does an affected father pass an X-linked dominant trait?
How does an affected father pass an X-linked dominant trait?
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How does an affected mother pass an X-linked dominant trait?
How does an affected mother pass an X-linked dominant trait?
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X-linked hypophosphatemia
X-linked hypophosphatemia
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Y-Linked Inheritance
Y-Linked Inheritance
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Genes involved in Y-linked Inheritance
Genes involved in Y-linked Inheritance
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Infertility in Y-linked inheritance
Infertility in Y-linked inheritance
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Purpose of Karyotyping
Purpose of Karyotyping
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What is analyzed in Karyotyping?
What is analyzed in Karyotyping?
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Turner Syndrome
Turner Syndrome
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Pedigree Analysis
Pedigree Analysis
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Autosomal Dominant Inheritance
Autosomal Dominant Inheritance
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Punnett Square
Punnett Square
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Vertical Transmission (Inheritance)
Vertical Transmission (Inheritance)
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New Mutation
New Mutation
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X-linked recessive inheritance
X-linked recessive inheritance
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Obligate carrier
Obligate carrier
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Duchenne muscular dystrophy
Duchenne muscular dystrophy
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Punnett square for X-linked recessive
Punnett square for X-linked recessive
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Diagonal pattern of inheritance
Diagonal pattern of inheritance
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Study Notes
Chromosomal Aberrations (Numerical & Structural)
- Interpreting chromosomal abnormalities is a key skill.
- Aneuploidy vs. polyploidy differentiation is important. Aneuploidy involves an abnormal number of chromosomes (not a multiple of the haploid number), while polyploidy involves a multiple of the haploid number.
- Balanced vs. unbalanced karyotypes are distinguished by the presence or absence of genetic material.
- Phenotypic outcomes relate to the type of chromosomal aberration.
Numerical Aberrations
- Euploidy refers to the normal chromosome number for a species. In humans, this is 46 (2n) in somatic cells and 23 (n) in gametes.
- Polyploidy is a condition where the chromosome number is a multiple of the haploid set.
- Triploidy (3n): A cell has three copies of each chromosome, often resulting from fertilization by two sperm or failure of reduction division in meiosis. Typically results in miscarriage.
- Tetraploidy (4n): A cell has four copies of each chromosome, usually due to a failure of the first zygotic cell division. Typically results in miscarriage.
Aneuploidy
- Aneuploidy is an abnormal chromosome number due to an extra or missing chromosome, not a multiple of the haploid number. This is more severe when affecting autosomes than sex chromosomes.
- Trisomy: The presence of three copies of an autosome or sex chromosome (2n+1). Examples include Down syndrome (trisomy 21).
- Monosomy: The absence of a single chromosome (2n-1). Commonly incompatible with survival. Example: Turner syndrome (45,X).
Mixoploidy
- Mixoploidy involves two or more genetically different cell lineages within an individual. This can result from mosaicism or chimerism.
Structural Aberrations
- Structural aberrations involve chromosome breakage and subsequent reunion, resulting in a variety of changes in chromosome structure. These changes can be balanced or unbalanced.
- Deletions (del): Loss of part of a chromosome.
- Inversions (inv): A segment of a chromosome is reversed in orientation (balanced).
- Insertions (ins): Insertion of a segment from one chromosome into another (balanced or unbalanced).
- Duplications (dup): Repetition of a chromosomal segment.
- Translocations: Transfer of genetic material from one chromosome to another.
- Reciprocal translocations: Exchange of segments between non-homologous chromosomes.
- Robertsonian translocations: Fusion of the long arms of two acrocentric chromosomes.
- Ring chromosomes: A chromosome forms a ring due to breaks and rejoining.
Karyotyping
- Karyotyping is a technique used to visualize and analyze chromosomes. Chromosomal abnormalities can be identified by looking at chromosome number and structure.
- Karyotype formulae provide an exact description of chromosomal abnormalities, using a standardized nomenclature. For example, 46,XX (normal female) or 47,XX,+21 (Down syndrome).
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