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FTM > Karyotype, Aneuploidy, and nondisjunction > Flashcards

Karyotype, Aneuploidy, and nondisjunction Flashcards

1
Q

Numerical Chromosomal abnormalities may be a result of?

A

Non-disjunction during meiosis
Non-disjunction during mitosis
Mosaicism

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2
Q

Structural Chromosomal Abnormalities may arise from?

A

Deletions
duplications
inversions
translocations
isochromosomes
Ring Chromosomes

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3
Q

what can be detected by Karyotyping?

A

can detect deletions, duplications, inversions, translocation

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4
Q

Deletions larger than what are visible by standard Karyotypes?

A

5 Mb

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5
Q

What is this an image of ?

A

Metacentric

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6
Q

What is this an image of ?

A

Submetacentric

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7
Q

What is this an image of ?

A

Acrocentric

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8
Q

Interphase FISH

A

Rapid testing
Avoids need for cell culturing
Chromosomes are decondensed in the nucleus

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9
Q

Metaphase FISH

A

Has to be cultured

usually done after G-banding karyotype

Gives location information because the banding pattern would be known

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10
Q

Euploidy-Triploidy

A

contain three chromosomes
not compatible with life

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11
Q

euploidy-Tetraploidy

A

Contain four copies of chromosomes
lethal

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12
Q

Aneuploidy trisomies compatible with life

A

Trisomy 21 Down syndrome
Trisomy 18 Edwards
Trisomy 13 Patau

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13
Q

Sex chromosome Aneuploidy

A 
Turner Syndrome( 45,X) 
Klinefelter (47,XXY)
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14
Q

Risk factors for Trisomy 21 Down syndrome

A

Increased Maternal Age

Increases risk for meitotic nondisjunction during oogenesis

Most common is meiosis I nondisjunction

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15
Q

Features of Trisomy 21 (down syndrome)

A
  • Intellectual disability
  • short stature
  • Depressed nasal bridge
  • upslanting palpebral fissures
  • epicanthal folds
  • congenital heart defects
  • single palmar crease
  • develop changes similar to Alzheimers disease at a relatively young age
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16
Q

What disease is shown by this karyotype?

A

trisomy 21

17
Q

What disease is shown by this FISH

A

trisomy 21

18
Q

What disease is shown by this CGH

A

trisomy 21

19
Q

Mechanism of Trisomy 18(Edwards Syndrome)

A

nondisjunction during oogenesis

20
Q

Features of Trisomy 18 (Edwards Syndrome)

A
  • Clenched fists or overlapping fingers
  • Rocker bottom feet
  • Congenital heart defects
  • Low-set ears, smaller lower jaw
  • Microcephaly
  • Intellectual disability
21
Q

What disease is shown by this Karyotype

A

trisomy 18 ( Edwards Syndrome)

22
Q

What disease is shown by this CGH

A

Trisomy 18 (Edwards Syndrome)

23
Q

Trisomy 13 (Patau Syndrome)

A

common mechanism is nondisjunction during oogenesis

24
Q

Features of Trisomy 13 (Pataus Syndrome)

A
  • Polydactyly
  • Cleft lip and palate
  • Microphthalmia
  • Microcephaly
  • Intellectual Disability
  • Cardiac Anomalies
25
Q

What disease is shown by this Karyotype

A

trisomy 13 (Patau syndrome)

26
Q

What disease is shown by this CGH

A

Trisomy 13 (Patau Syndrome)

27
Q

Turner syndrome (45,X)

A

X chromosome Monosomy

due to nondisjunction during Spermatogenesis

28
Q

features of Turner syndrome

A
  • Webbed neck and neck swelling at birth(cystic hygroma)
  • Primary amenorrhea
  • Gonadal Dysgenesis
  • Streak ovaries
  • Lymphoedema of hands and feet
29
Q

What disease is shown by this Karyotype

A

Turner Syndrome(45,X)

30
Q

What disease is shown by this CGH

A

Turner Syndrome (45,X)

31
Q

Mosaic Turner syndrome - not phenotypic

A
  • Fertillized egg could have been 46,XX
  • Mitotic nondisjunction during embryogenesis
  • Some cells are 45,X others are : 46,XX 47,XXX
32
Q

Mosaic Turner syndrome -phenotypic

A
  • Fertilized egg 46, XY
  • Mitotic Nondisjunction during embryogenesis
  • Some Cells are 45,X others 46 XY
  • Mosaic 45,X/ 46XY are recommended for oophorectomy due to risk of gonadoblastoma
33
Q

Klinefelter syndrome 47,XXY

A

Genetic mechanism : nondisjunction during meiosis

mosaic : 46XY/47XXY/48XXXY

34
Q

Features of Klinefelter syndrome for a male(47,XXY)

A
  • Gyncecomastia
  • Female distribution of hair
  • infertility ad testicular atrophy due to low levels of testosterone
  • Feminization of features
35
Q

What disease is shown by this Karyotype?

A

Klinefelter syndrome

36
Q

What disease is shown by this CGH

A

Klinefelter Syndrome

37
Q

What is the mechanism for Mosaicism?

A

Mitotic disjunction

38
Q

2 ways that a person could be mosaic for a down syndrome

A

non-disjunction may occur as a post-zygotic event during embryonic development

  • Trisomy Rescue: fetus has 2 cell types
    • Non-disjunction may occur in the ovum during oogenesis and fertilization by a normal sperm leads to trisomy 21 in the conception
    • During the post-fertilization mitosis one of the extra chromosome 21 is evicted during cell division

FTM (13 decks)

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