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Biomedical Genetics > Chromosome and Karyotype Rearrangements > Flashcards

Chromosome and Karyotype Rearrangements Flashcards

1
Q

What are the different types of changes that can be made to chromosomes?

A

Number: aneuploidy and polyploidy
Organization: deletions, duplications, breaks, inversions, translocations

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2
Q

What is aneuploidy?

A

2n+/2n-
Mistakes in meiosis during zygotic/embryonic development

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3
Q

What are autosomal monosomy?

A

rare in animal kingdom; unmasks lethal alleles

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4
Q

What are autosomal trisomies?

A

phenotypic effects similar to monosomies
- Small chromosomes can be viable
- Large chromosomes are lethal

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5
Q

What is trisomy 21?

A

Down Syndrome: extra chromosome

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6
Q

What is Trisomy 13?

A

Patau Syndrome

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7
Q

What is Trisomy 18?

A

Edwards Syndrome

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8
Q

What is polyploidy?

A

more than 2n chromosome sets

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9
Q

What are the different types of polyploidy?

A

Germline events- rare
1. Tetraploids
2. Triploids
Somatic Genome duplication- common

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10
Q

What are the Type I changes of structural chromosome aberrations?

A

Deletions, duplications, inversions, translocations

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11
Q

What are deletions?

A

loss of any genetic material (single locus or larger segments)

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12
Q

What are the different types of deletions?

A

terminal: 1 break
intercalary: 2 breaks

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13
Q

What are duplications?

A

any part of genetic material is present more than once

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14
Q

What is the mechanism of deletions?

A

chromosomal breaks

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15
Q

What is the mechanism of duplications?

A

unequal crossing over or DNA replication errors

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16
Q

What are inversions?

A

linear order of a segment inverted 180 degrees: effects homologs pairing and crossing over in meiosis

17
Q

What are translocations?

A

exchange ions material between non-homologous chromosomes: reorganizing genetic material

18
Q

What are II Type Cell changes in structural Chromosome aberrations?

A

somatic aberrations: mitosis
germ cells: meiosis/inherited

19
Q

What are III extent structural chromosome aberrations?

A

both homologs: homozygous
one homolog: heterozygous

20
Q

What are fragile sites?

A

heritable loci on chromosomes that are visible gaps/breaks when cells are exposed to specific chemicals

21
Q

What are the two types of fragile sites?

A

Common: found in all individuals; not associated with diseases

Rare: in few individuals; associated with diseases

Biomedical Genetics (6 decks)

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