Karyotyping

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What is karyotyping?

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Karyotyping is a laboratory technique used to visualize and analyze the number and structure of chromosomes in a cell.

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What does a normal human karyotype look like?

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A normal human karyotype has 46 chromosomes, arranged in 23 pairs, including 22 pairs of autosomes and 1 pair of sex chromosomes (XX for females, XY for males).

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What is a chromosomal mutation?

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A chromosomal mutation is a change in the structure or number of chromosomes, which can lead to genetic disorders.

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What is Down syndrome?

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Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21, resulting in a total of 47 chromosomes.

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How can you identify a male from a karyotype?

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A male can be identified by the presence of one X and one Y chromosome (XY) in the karyotype.

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How can you identify a female from a karyotype?

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A female can be identified by the presence of two X chromosomes (XX) in the karyotype.

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What is Turner syndrome?

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Turner syndrome is a condition caused by the absence of one of the X chromosomes in females, resulting in a karyotype of 45 chromosomes (45,X).

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What is Klinefelter syndrome?

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Klinefelter syndrome is a genetic condition in males caused by the presence of an extra X chromosome, resulting in a karyotype of 47 chromosomes (47,XXY).

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What is the significance of chromosome 15 in Angelman syndrome?

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Angelman syndrome is caused by the deletion or mutation of genes on chromosome 15, leading to developmental delays and neurological issues.

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What does it mean if a chromosome is 'misshapen'?

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A misshapen chromosome may indicate structural abnormalities, such as deletions, duplications, or translocations, which can affect gene function.