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BIMS 320 > Chapter 6 > Flashcards

Chapter 6 Flashcards

1
Q

Nodisjunction

A

When chromosomes fail to separate properly

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2
Q

Aneuploid

A

Having an abnormal number of chromosomes (normally individual chromosomes)

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3
Q

Uniparental disomy

A

When both copies of a homologous pair of chromosomes are inherited from a single parent

*not detected by karyotype

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4
Q

Euploid

A

Having the correct number of chromosomes

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5
Q

Trisomy

A

The gain of a single chromosome (3 in total)

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6
Q

Monosomy

A

The loss of a single chromosome (1 total chromosome)

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7
Q

Polyploid

A

Possessing more than two complete SETS of chromosomes

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8
Q

Genomic imprinting

A

A process by which only one copy of a gene is expressed while the other copy is suppressed, based on the parent of origin (whether it is the maternal or parental copy)

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9
Q
A
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10
Q
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11
Q
A
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12
Q

What segment is the arrow pointing to?

A

1q2.4

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13
Q

What are the viable trisomies in humans?

A

13, 18, 21, X

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14
Q

What are the viable monosomies in humans?

A

There are NO viable autosomal monosomies.

X monosomy is the only one period

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15
Q

Deletion

A

The loss of part of a chromosomes (can be intercalary aka in the middle or terminal aka at the end)

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16
Q

Duplication

A

Additional copies of a region of a chromosome (includes copy number variants)

*can be caused by unequal crossing over

17
Q

Inversion

A

Rearrangement of genetic segments within the same chromosome

18
Q

What are the two types of inversion?

A

Pericentric: inversion that includes centromere

Paracentric: inversion that does NOT include centromere

*will have 2 normal homologs and 2 homologs that have both deletions and duplications

19
Q

Translocation

A

Exchange of genetic segments between two nonhomologous chromosomes

20
Q

3 types of translocation

A

Reciprocal, nonreciprocal, and robertsonian

21
Q

Reciprocal translocation

A

Equal part exchange of genetic info between two nonhomologous chromosomes (they both get some)

22
Q

Nonreciprocal translocation

A

An unequal exchange of genetic info between nonhomologous chromosomes (one doesn’t get any)

23
Q

Robertsonian translocation

A

When two nonhomologous, acrocentric chromosomes’ q arms fuse and create one chromosome (p arms don’t really carry genetic info so no genetic info is lost)

*creates 3 lethal gametes and 3 viable gametes. 1 normal, 1 translocation carrier, and 1 translocation Down syndrome

24
Q

When does an inversion loop occur?

A

During prophase I

25
Q

Nondisjunction in Meiosis I vs Meiosis II

A

Meiosis I: failure of homologous chromosomes to seperate. Normally results in heterozygous copy (Aa). Results in 4 aneuploid gametes

Meiosis II: failure of sister chromatids to separate. Normally results in homozygous copy (aa). Results in 2 normal and 2 aneuploid gametes

BIMS 320 (20 decks)

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