Monosomy and Turner Syndrome
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Questions and Answers

What is the most common chromosomal abnormality associated with Turner Syndrome?

  • 45, X karyotype (correct)
  • XXY karyotype
  • Trisomy 21
  • Deletion of chromosome 5
  • What best describes the survival rate of fetuses with Turner syndrome?

  • Survival rate is similar to that of a normal fetus.
  • Less than 50% survive to term with medical intervention.
  • Approximately 2% survive to term through spontaneous means. (correct)
  • Approximately 98% survive to term.
  • What is a common physical characteristic observed in individuals with Turner syndrome?

  • Presence of ovaries with proper function
  • Ovarian production, and regular menstruation cycles
  • Excessive height and limb length
  • Short stature and absence of ovaries (correct)
  • Which of these is a typical skeletal manifestation seen in individuals with Turner syndrome?

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

    Which physical traits are often displayed by a child with Turner Syndrome? (Select all that apply)

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

    Study Notes

    Monosomy

    • Turner syndrome, with a 45, X karyotype, is the only monosomy compatible with life.
    • Even then, 98% of fetuses with the syndrome are spontaneously aborted.
    • The few who survive are unmistakably female, with absent ovaries and short stature.
    • Common associated abnormalities include webbed neck, lymphedema of the extremities, skeletal deformities, and a broad chest with widely spaced nipples.

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    Description

    Explore the implications of monosomy, focusing on Turner syndrome, which presents with a 45, X karyotype. This syndrome is notable for its compatibility with life, despite a high rate of spontaneous abortion. Discover the typical physical traits and associated abnormalities of those who survive.

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