Chromosome Analysis and Abnormalities Quiz
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Questions and Answers

What is required to define a clone in chromosome analysis?

  • At least one cell demonstrating chromosome loss
  • At least four cells with different abnormalities
  • At least two metaphase cells with the same extra chromosome or structural abnormality (correct)
  • At least three cells with the same extra chromosome

    • What distinguishes chimerism from mosaicism?

  • Chimerism involves multiple cell lines arising from the same embryo.
  • Chimerism requires at least two genetically distinct cell lines from different conceptions. (correct)
  • Mosaicism can be diagnosed with only one cell line present.
  • Mosaicism consists of genetically distinct cell lines from different conceptions.

    • Which of the following is an example of acquired mosaicism?

  • Constitutional Turner syndrome
  • Bone marrow transplant
  • Twin-twin fusion
  • Chronic myeloid leukemia (CML) (correct)

    • Which statement is true regarding abnormality observation in chromosome analysis?

    <p>An abnormality must be seen in two independent cultures to rule out in vitro artifacts.</p> Signup and view all the answers

    Which condition is an example of somatic mosaicism?

    <p>Turner syndrome with 45,X/46,XX</p> Signup and view all the answers

    What commonly occurs with a monosomic cell line?

    <p>It often has a growth disadvantage.</p> Signup and view all the answers

    Which of the following is a known consequence of fertilization errors?

    <p>Triploidy</p> Signup and view all the answers

    Which of the following is NOT a common chromosomal abnormality?

    <p>48,XXXY</p> Signup and view all the answers

    What percentage of aneuploidy cases is estimated to originate from maternal factors?

    <p>30%</p> Signup and view all the answers

    What type of syndrome is associated with 45,X?

    <p>Turner syndrome</p> Signup and view all the answers

    Which chromosomal configuration represents triploidy?

    <p>69,XXY</p> Signup and view all the answers

    Which of the following phenotypes is likely the result of dispermy?

    <p>Triploidy</p> Signup and view all the answers

    What phenotype can result from a failure of the first cell division after fertilization?

    <p>Triploidy</p> Signup and view all the answers

    What is the consequence of endoreduplication of a haploid genome?

    <p>It may cause molar pregnancy</p> Signup and view all the answers

    What defines uniparental disomy (UPD)?

    <p>Both chromosomes from one parent</p> Signup and view all the answers

    What type of uniparental disomy consists of non-identical copies?

    <p>Heterodisomy</p> Signup and view all the answers

    Which of the following is a mechanism leading to uniparental disomy?

    <p>Chromosomal nondisjunction</p> Signup and view all the answers

    Which of the following conditions is associated with increased risk for recessive diseases in UPD?

    <p>Isodisomy</p> Signup and view all the answers

    What is the incidence rate of autosomal trisomy detected in newborns?

    <p>1.62 per 1000</p> Signup and view all the answers

    Which sex chromosome aneuploidy has the highest incidence among newborns?

    <p>47,XXY and variants</p> Signup and view all the answers

    What chromosomal abnormality is characterized by two copies derived from both parents?

    <p>Biparental</p> Signup and view all the answers

    Which of these abnormalities is least commonly detected in newborns?

    <p>+C group aneuploidies</p> Signup and view all the answers

    What can result from the erasure of imprinting in the germline?

    <p>Uniparental disomy disorders</p> Signup and view all the answers

    What is the expected percentage of 45,X conceptuses that result in spontaneous abortion?

    <p>99%</p> Signup and view all the answers

    What is the general designation of a karyotype based on?

    <p>Chromosome number relative to ploidy level</p> Signup and view all the answers

    What is considered a Barr body in a normal female cell?

    <p>One inactive X chromosome</p> Signup and view all the answers

    Which chromosome region is required for pairing and recombination between X and Y in males?

    <p>Pseudoautosomal (PAR) regions</p> Signup and view all the answers

    How should multiple cell lines in mosaicism be listed?

    <p>From largest abnormal clone to smallest</p> Signup and view all the answers

    What does the symbol '-' represent in karyotype nomenclature?

    <p>Loss of a chromosome</p> Signup and view all the answers

    What does the Lyon hypothesis explain?

    <p>X chromosome dosage compensation in females</p> Signup and view all the answers

    Which of the following statements about sex chromosome aneuploidy is correct?

    <p>Errors in XY pairing can increase incidence.</p> Signup and view all the answers

    What is indicated by the term 'der' in karyotype nomenclature?

    <p>A derivative chromosome due to structural rearrangement</p> Signup and view all the answers

    Which of the following symbols indicates a deletion in karyotype notation?

    <p>del</p> Signup and view all the answers

    What triggers the condensation of the inactive X chromosome during X-inactivation?

    <p>Histone modification</p> Signup and view all the answers

    In what stage does X-inactivation occur during development?

    <p>At the blastocyst stage</p> Signup and view all the answers

    In karyotype nomenclature, what does 'dn' signify?

    <p>De novo mutation not inherited</p> Signup and view all the answers

    What is a common outcome for individuals with 45,X karyotype?

    <p>Severe developmental abnormalities</p> Signup and view all the answers

    Which of the following correctly separates clones in mosaic karyotypes?

    <p>/</p> Signup and view all the answers

    What does the karyotype '45,X/46,XY' indicate?

    <p>Mosaicism with two different chromosomal counts</p> Signup and view all the answers

    How many Barr bodies would a female with the karyotype 47,XXX have?

    <p>2</p> Signup and view all the answers

    What is the function of the SRY gene found on the Y chromosome?

    <p>Determination of male phenotype</p> Signup and view all the answers

    What is considered advanced maternal age (AMA)?

    <p>≥ 35 years</p> Signup and view all the answers

    Which type of diseases are associated with hematologic oncology?

    <p>Myeloid and lymphoid diseases</p> Signup and view all the answers

    What is the main role of the centromere during cell division?

    <p>Attaching to spindle fibers</p> Signup and view all the answers

    Which chromosomes are classified as acrocentric chromosomes?

    <p>Chromosomes 13, 14, 15, 21, 22</p> Signup and view all the answers

    What best describes euploid cells?

    <p>Cells with a normal chromosome count</p> Signup and view all the answers

    Which process primarily leads to aneuploidy?

    <p>Nondisjunction</p> Signup and view all the answers

    Which of the following describes the phases of the cell cycle?

    <p>G1, S, G2, M</p> Signup and view all the answers

    What occurs during prophase I of meiosis?

    <p>Homologous chromosomes pair and cross over</p> Signup and view all the answers

    What characterizes heterochromatin?

    <p>Tightly packed and genetically inactive</p> Signup and view all the answers

    What percentage of the human genome comprises unique DNA sequences?

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

    What happens during anaphase in mitosis?

    <p>Sister chromatids separate</p> Signup and view all the answers

    Which type of genetic abnormality is most closely related to advanced maternal age?

    <p>Trisomy</p> Signup and view all the answers

    In what part of the cell cycle does DNA replication occur?

    <p>S phase</p> Signup and view all the answers

    What is a characteristic feature of satellite DNA?

    <p>Is a non-coding region</p> Signup and view all the answers

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