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BIOL 113 > 3 - Chromosomal abnormalities > Flashcards

3 - Chromosomal abnormalities Flashcards

1
Q

cytogenetics

A

The study of the structure and function of chromosomes

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2
Q

what is cytogenetics used for?

A

Used for the screening and diagnosis of inherited chromosomal disorders

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3
Q

Karyotype

A

a preparation of chromosomes arranged in size order

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4
Q

how to make a karyotype

A

blood sample treated with chemical that stimulates mitosis

another chemical added to stop mitosis at metaphase (double chromosomes but not separated yet)

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5
Q

what are the 3 ways to identify a chromosome?

A
  1. length
  2. banding pattern
  3. centromere placement
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6
Q

metacentric

A

centromere in centre

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7
Q

sub-metacentric

A

centromere is off-centre

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8
Q

acrocentric

A

centromere very close to end

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9
Q

What is karyotyping used for?

A

to detect changes in chromosome number and shape

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10
Q

polyploidy

A

Extra whole sets of chromosomes

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11
Q

aneuploidy

A

Some additional or missing chromosomes

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12
Q

monosomy

A

1 chromosome missing

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13
Q

trisomy

A

1 extra chromosome

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14
Q

what is aneuploidy caused by?

A

non-disjunction of homologous chromosomes

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15
Q

what is the only autosomal aneuploidy that permits survival into adulthood?

A

Down’s Syndrome

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16
Q

what is trisomy 21 commonly known as?

A

Down’s syndrome: 47,XX,+21

17
Q

characteristics of down’s syndrome

A
  • short
  • sterile
  • mental retardation
  • heart defects
18
Q

screening for chromosomal abnormalities

A
  1. amniocentesis and karyotyping
  2. blood tests
  3. ultrasounds
19
Q

what is the only viable human monosomy?

A

Turner syndrome: 45,XO

20
Q

characteristics of turner’s syndrome

A
  • phenotypically female
  • sterile, as sex organs immature
  • treatment via oestrogen replacement
21
Q

Klinefelter syndrome

A

47, XXY

22
Q

characteristics of Klinefelter’s syndrome

A
  • male with female characteristics
  • tall
  • sterile

– treated with testosterone replacement

23
Q

What is a deletion mutation?

A

one nucleotide is taken away from a gene or DNA sequence

24
Q

What is a duplication mutation?

A

When one or more bases are repeated

25
Q

what is an inversion mutation?

A

when part of a chromosome breaks off and reattaches backwards

26
Q

what is reciprocal translocation?

A

The breakage and rejoining of 2 non-homologous chromosomes, with a reciprocal exchange of the broken segments.

27
Q

What is cri du chat syndrome?

A

absence of short arm of 5th chromosome

28
Q

characteristics of cri du chat syndrome

A
  • cat-like cry
  • defects in larynx
  • retardation
29
Q

Prader-Willi Syndrome

A

Deletion in long arm of chr 15 (15q1.12)

- only occurs when the affected chromosome is inherited from the father, due to genomic imprinting

30
Q

prader willi characteristics

A
  • poor suckling reflex
  • uncontrollable eating
  • poor male sexual development
31
Q

Angelman Syndrome

A

deletion of maternal chromosome 15

32
Q

characteristics of angelman’s syndrome

A
  • happy demeanor
  • innapropriate outbursts of laughter
  • mental retardation
33
Q

which conditions are caused by translocations

A

familial down’s syndrome and chronic myelotic leukaemia

34
Q

Familial Down’s Syndrome

A
  • accounts for ~5% of Down’s cases

- Translocation carrier t(14;21): one of the chr 21’s is attached to one of the chr 14s

35
Q

Chronic myelocytic leukaemia (CML)

A
  • spontaneous, not heritable
  • Occurs in 1 per 50-100,000 of the population, most common in middle-aged/elderly
  • Accounts for 15-20% of all cases of leukaemia
36
Q

what causes Chronic myelocytic leukaemia

A

22-9 translocation creating BCR-ABL fusion gene

37
Q

BCR-ABL fusion gene

A

an oncogene that stimulates over-production of white blood cells

BIOL 113 (11 decks)

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