A&P Lab - Class 4: Human Karyotype
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Last updated 10:36 PM on 11/28/22
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16 Terms
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The human somatic cell contains ____ chromosomes
46
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Out of a human's 46 chromosomes, _____ pairs are autosomal
22
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How many sex chromosomes does a typical human have?
2
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Autosomal chromosomes affect __________ characteristics.
Sex chromosomes determine the ___________________ of an individual.
Sex chromosomes determine the ___________________ of an individual.
Somatic,
genetic sex.
genetic sex.
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How are chromosomes organized in a karyotype?
In order from decreasing size (chromosome 1 pair is the largest).
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Why might it be necessary to prepare a karyotype?
- Seeing how chromosomes physically resemble.
- Detect potential abnormalities.
- Determine centromere positions.
- Determine individual's sex.
- Detect potential abnormalities.
- Determine centromere positions.
- Determine individual's sex.
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What is trisomy 21?
What has happened in reference to chromosome number?
What has happened in reference to chromosome number?
Down Syndrome.
There are 3 copies of chromosome 21.
There are 3 copies of chromosome 21.
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What does Down Syndrome result from?
Nondisjunction, a failure of chromosomal separation during meiosis.
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Locus
The position of a gene on a chromosome
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Genotype
The genetic constitution of an organism (genes present on chromosome).
Ex. AA, Aa, aa.
Ex. AA, Aa, aa.
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Phenotype
The observed characteristics of an individual (the physical expression of a gene).
Ex. Brown eyes.
Ex. Brown eyes.
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Allele
Alternate forms of the same gene, found on the same locus of a homologous chromosome (affecting the same chromosome but often coding for different phenotypes).
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Trisomy 13 name.
Characteristics.
Characteristics.
Patau syndrome.
Characterized by:
- Cleft lip and palate
- Polydactyly
- Eye defects
- Small head and chin
- Low-set ears
- Hearing, breathing, vision, feeding issues
Characterized by:
- Cleft lip and palate
- Polydactyly
- Eye defects
- Small head and chin
- Low-set ears
- Hearing, breathing, vision, feeding issues
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Trisomy 21 name.
Characteristics.
Characteristics.
Down Syndrome.
Characterized by:
- 30%-50% have heart defects
- Quietness/less responsiveness
- Weak muscles
- Flat appearing face
- Small head, nose, mouth causing tongue to stick out
- Upward slanted eyes
- Malformed fifth finger
Characterized by:
- 30%-50% have heart defects
- Quietness/less responsiveness
- Weak muscles
- Flat appearing face
- Small head, nose, mouth causing tongue to stick out
- Upward slanted eyes
- Malformed fifth finger
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Cri-Du-Chat syndrome is caused by:
Characteristics.
Characteristics.
Deletion of the short arm of chromosome 5.
Characterized by:
- Mewing-like cry
- Rounded face
- Wide eyes
- Receding chin
Characterized by:
- Mewing-like cry
- Rounded face
- Wide eyes
- Receding chin
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Trisomy 18 name.
Characteristics.
Characteristics.
Edwards Syndrome
Characterized by:
- Predisposition to numerous birth defects
- Increased infant mortality
- Developmental disabilities (and growth development delays)
- Difficulty feeding
- Under development of lungs
Characterized by:
- Predisposition to numerous birth defects
- Increased infant mortality
- Developmental disabilities (and growth development delays)
- Difficulty feeding
- Under development of lungs