Updated: 4/16/2021

Karyotyping

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Overview
  • Function
    • examine chromosomal structure
  • Process  
    • mitotic cells in metaphase selected from actively dividing cell population
      • white cells, bone marrow, placenta, amnion
      • when chromosomes are most condensed
    • chromosomes are stained with or without G-banding
      • G-banding involves partial digestion with trypsin
        • leaves alternating dark and white bands
      • staining with Giemsa or other stains which have affinity for DNA
    • spectral karyotyping
      • 5 different fluorescent probes are added
      • special digital image processing colors each chromosomes differently
    • chromosomes are ordered, numbered based on unique properties of all 23 chromosomes
  • Clinical use
    • can analyze whether a gross chromosomal abnormality exists
      • ex.) trisomy, monosomy
    • used commonly for prenatal diagnosis via chorionic or amniotic sampling
    • spectral karyotyping can also diagnose translocations, inversions, or deletions of specific chromosomal segments if the change is large enough

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Questions (2)
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(M1.BC.14.71) A 16-year-old presents to the primary care physician because he has noticed an increase in the size of his breast tissue over the past 3 years. He states that he is significantly taller than his entire class at school although he feels increasingly weak and uncoordinated. He performs at the bottom of his grade level academically. On physical exam the patient has marked gynecomastia with small firm testes. The physician decides to perform a karyotype on the patient. What is the most likely outcome of this test?

QID: 106499
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47, XXY

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46, XY

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47, XY

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45, XO

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47, XXX

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(0/22)

M 2 D

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