Chromosome Abnormalities Flashcards Preview

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Flashcards in Chromosome Abnormalities Deck (5)
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1
Q

X chromosome abnormalities

A

More or fewer copies of sex chromosomes X

2
Q

Aneuploidy

A

More or fewer copies of a particular chromosome

3
Q

Deletions, micro deletions, duplications, translocations and inversions

A

Part of chromosome is missing or exchanged

4
Q

What is an example of Aneuploidy?

A

Trisomy of the 21st chromosome - leads to Down’s syndrome

5
Q

What is a gene?

A

Functional stretch of DNA on a chromosome contains exons and introns with promoter region bound by RNA polymerase and transcription factors