Human genetics when things go awry
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Human Genetics: When Things Go Awry!. Nondisjunction Karyotyping Chromosomal Mutations. Meiosis I and II. Normal Human Karyotype. Normal Male Karyotype. Karyotype. An orderly display of magnified images of an individual’s chromosome

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Human genetics when things go awry

Human Genetics: When Things Go Awry!

Nondisjunction

Karyotyping

Chromosomal Mutations





Karyotype
Karyotype

  • An orderly display of magnified images of an individual’s chromosome

  • Appear in metaphase: thick and doubled (with their sister)

  • See procedure for making karyotype from blood sample (in textbook or in handout)


Nondisjunction
Nondisjunction

  • An accident of meiosis (or mitosis) in which a pair of homologous chromosomes or a pair of sister chromatids fail to separate at anaphase

  • May result in an abnormal chromosome number in either sex

  • May result in abnormal number of autosomal chromosomes

  • May result in abnormal number of sex chromosomes




Autosomal karyotype
Autosomal Karyotype




Turner s syndrome monosomy x
Turner’s syndrome (Monosomy X)



Chromosomal mutations
Chromosomal Mutations

  • Changes in the number or structure of chromosomes

  • May change location of certain genes on chromosomes

  • May change the number of copies of genes

  • Include:

    • Deletions

    • Duplications

    • Inversions

    • Translocations

  • When would such events occur during meiosis?


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