Human Chromosomes Male Xy X y Female XX X XX Xy Daughter Son.
How many chromosomes should a “normal” human have? Are females XX or XY?
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How many chromosomes should a “normal” human have?
Are females XX or XY?
How do the words: DNA, gene and chromosomes relate?
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12.2: Chromosomal Disorders
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Chromosomal disorders: Errors in the number or structure of a chromosome
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Non-disjunctionHomologous chromosomes or sister
chromatids fail to separate during meiosis.
Result: Gametes with abnormal # of chromosomes
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Non-disjunction
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Trisomy Having 3 of a particular chromosome.
Examples
Trisomy 21: Down syndrome
Trisomy 18: Edwards syndrome
- feet with rounded bottom
- crossed legs, clenched hands
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Trisomies of Sex Chromosomes
XXX Female
XXY: Klinefelter Male
XYY: Male
Turner’s Syndrome
XO Female
45 Chromosomes
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Chromosomal Duplications Part of a chromosome is repeated. Vary from fatal to developmental abnormalities. Often leads to cancer in somatic cells
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Chromosomal Deletions Part of a chromosome is deleted.
Ex: Williams Syndromehttp://abcnews.go.com/2020/video/williams-syndrome-children-friend-health-disease-hospital-doctors-13817012
Partial deletion of chromosome 7
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Chromosome InversionFragment breaks and reverses on the same chromosome.Not as lethal.
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Chromosome Translocation
• List of Chromosome Disorders• http://www.netnet.net/mums/mum_chro.htm
Fragment of one chromosome attaches to ANOTHER, DIFFERENT chromosome.
If there is an UNEQUAL swap of segments, results can serious.
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TransposonsSingle genes that can move around.“Jump” from one chromosome to another.If they insert in the middle of an existing gene, that gene will be disrupted.
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