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Questions and Answers

What is one of the physical features associated with Wolf-Hirschhorn Syndrome?

  • Rounded face (correct)
  • Small chin
  • Large head
  • Wide spaced eyes
  • Which of the following conditions can be associated with chromosome 9 inversion?

  • Mild developmental delays
  • Cleft lip
  • Microcephaly
  • Congenital anomalies (correct)
  • Which gene is associated with developmental delay and facial abnormalities in Wolf-Hirschhorn Syndrome?

  • NSD1
  • LETM1
  • MSX1
  • NSD2 (correct)
  • Which of the following is NOT a common outcome associated with chromosome 9 inversion?

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

    What type of chromosomal deletion occurs when two breaks happen in the same chromosome arm?

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

    Which type of structural chromosomal variant involves a part of a chromosome being deleted?

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

    Which feature is indicative of a broad, flattened bridge of the nose in chromosomal syndromes?

    <p>Flat facial profile</p> Signup and view all the answers

    Which feature is associated with low birth weight in chromosomal abnormalities?

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

    What is a characteristic physical feature of Patau Syndrome?

    <p>Extra toes or fingers</p> Signup and view all the answers

    Which feature is NOT typically associated with Down Syndrome?

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

    Which statement is true regarding trisomy conditions?

    <p>Patau Syndrome can cause severe mental retardation.</p> Signup and view all the answers

    What is typically NOT associated with increased vulnerability to autism spectrum disorders?

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

    Which is a feature commonly seen in both Down Syndrome and Patau Syndrome?

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

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

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

    What developmental issue is particularly associated with Patau Syndrome?

    <p>Severe mental retardation</p> Signup and view all the answers

    What feature is a common physical manifestation of Down Syndrome?

    <p>Presence of epicanthic folds</p> Signup and view all the answers

    What is a feature of Warkany Syndrome related to facial characteristics?

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

    Which of the following describes the chromosomal condition associated with Warkany Syndrome?

    <p>Trisomy 8</p> Signup and view all the answers

    What can cause structural aberrations in chromosomes?

    <p>Exposure to teratogens</p> Signup and view all the answers

    Which of the following terms describes the reduced distance between the eyes?

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

    In cytogenetic notation, what does 'p' denote?

    <p>Short arm of the chromosome</p> Signup and view all the answers

    What is one of the notable physical features associated with Warkany Syndrome?

    <p>High arched or cleft palate</p> Signup and view all the answers

    What does the term 'inversion' refer to in structural rearrangements?

    <p>A segment is reversed end to end</p> Signup and view all the answers

    Which of the following statements is true about chromosome numbering?

    <p>Chromosomes are numbered based on size and structure.</p> Signup and view all the answers

    What is the role of TMPRSS2 in the TMPRSS2 and ERG fusion?

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

    Which of the following is NOT a type of sample used in cytogenetic analysis?

    <p>Hematopoietic stem cells</p> Signup and view all the answers

    What is the primary purpose of phytohemagglutinin (PHA) in karyotyping?

    <p>To stimulate cell metabolic activity</p> Signup and view all the answers

    Which reagent is used to prevent the formation of spindle fibers during cytogenetic analysis?

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

    Which method is used for prenatal testing to detect chromosomal abnormalities?

    <p>Chromosomal Microarray Analysis</p> Signup and view all the answers

    What is one of the main benefits of cytogenetic analysis in cancer treatment?

    <p>Identifying chromosomal abnormalities</p> Signup and view all the answers

    What is the effect of potassium chloride solution in cytogenetic analysis?

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

    What does FISH stand for in the context of genetic analysis?

    <p>Fluorescent In situ Hybridization</p> Signup and view all the answers

    What is a characteristic of isochromosomes?

    <p>They are formed by abnormal division of the centromeres.</p> Signup and view all the answers

    What does a balanced translocation imply?

    <p>There is no change in the amount of genetic material.</p> Signup and view all the answers

    What distinguishes an unbalanced translocation from a balanced one?

    <p>Unbalanced translocation results in partial monosomy or trisomy.</p> Signup and view all the answers

    How does a Robertsonian translocation occur?

    <p>Through the centromere fusion of two acrocentric chromosomes.</p> Signup and view all the answers

    Which event does NOT contribute to the formation of a translocation?

    <p>Balanced distribution of chromatin during cell division.</p> Signup and view all the answers

    What type of chromosomes are typically involved in a Robertsonian translocation?

    <p>Acrocentric chromosomes.</p> Signup and view all the answers

    What happens to blood cells (blast cells) as they mature?

    <p>They become larger until they rupture.</p> Signup and view all the answers

    What term describes the movement of a segment of a chromosome to another location?

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

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