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PRIN > PRIN 2 Cell Division & Chromosomes > Flashcards

PRIN 2 Cell Division & Chromosomes Flashcards

1
Q

What stages does Meisois get halted within the Oocyte?

A

During development it gets arrested in Prophase 1

Beginning at puberty, an egg gets released and resumes meiosis but again gets arrested at Metaphase 2

Resumes & completes M2 only if fertilization occurs

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2
Q

Triangle vs Diamond

A 
Triangle = abortion
Diamond = unknown sex
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3
Q

NIPT

A

Non-invasive prenatal testing

*analyzes cell-free fetal DNA circulating in maternal blood

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4
Q

M1 vs M2

What gets seperated?

A

M1: chromosomes separate
XX / YY

M2: chromatids separate
X / X / Y / Y

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5
Q

Roberstson Translocation

A

Fusion of 2 acrocentric chromsomes (13, 14, 15, 21, 22) near the centromere

short arms of acrocentric chromosme contains RNA, join, and gets lost

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6
Q

Prader Willi Syndrome

A

chromosome 15 segments are deleted
children fail to thrive
severe developmental issues
morbid obesity

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7
Q

Common Aneuplodies associated with advanced maternal age

A 
Trisomy 13 Patau, cleft lip, lethal
Trisomy 18 Edwards
Trosomy 21 DS
XXX normal, but tall
XXY Klinefelters
X Turners
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8
Q

Anaphase Lag

A

results in a chromosome loss

-gets left behind as new nuclear membrane forms

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9
Q

Mitosis Overview

A

2n … Replication …. 2x2n …. M …. 2n

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10
Q

Meiosis Overview

A

2n … replication … 2x2n … M1 … 2xn …. M2 ….n

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11
Q

Result of M1 Error

A

(1) 1 of each (total of 2)
(2) 1 of each (total of 2)
(3) n/a
(4) n/a

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12
Q

Result of M2 error

A

(1) 2 of the same
(2) n/a
(3) 1
(4) 1

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13
Q

Thickness of DNA double helix

A

2nm

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14
Q

Thickness of Chromatin

A

30nm

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15
Q

Width of metaphase chromosome

A

1400nm

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16
Q

Thickness of one arm of chromosome

A

700nm

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17
Q

Thickness of Nucleosome

A

“beads” are 11nm
comprises of 8 histones
“beads on a string”

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18
Q

When do bivalents align at the metaphase plate?

A

Meiotic metaphase I

Bivalent = tetrad

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19
Q

Isochromosome

A

mirror image

chromosome with 1 arm missing, 1 arm duplicated; sis chromatid exchange likley

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20
Q

Where is ribosomal RNA (rRNA) synthesized?

A

nucleolus

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21
Q

What percentage heterochromatin & euchromatin?

A

10% heterochromatic

90% euchromatic

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22
Q

During which of the following stages are synaptonemal complexes formed?

A

Meiotic Prophase 1

23
Q

When do pairs of sister chromatids separate from one another?

A

Meiotic Anaphase II

Mitotic Anaphase

24
Q

Most common chromosomal abberation in spontaneous abortion

A

Trisomy 16 is the result of most early losses

25
Q

Most common cause of monosomy

A

Chromosome lag during cell division in the developing embryo

26
Q

A parent with an inversion will have what risk of having a child with an inversion?

A

5-10% risk of having a child with an inversion.

27
Q

Potency

A

how much drug is required to elicit a response

28
Q

Efficacy

A

response produced by a drug

29
Q

FISH vs G Banding

A

FISH: reveals quantity of what is present
vs
G Banding: reveals structure

30
Q

most common procedure used to diagnose simple trisomy and most structural abnormalities

A

G Banding

uses Giemsa to stain the chromosomes

31
Q

When does a nuclear envelope form around a diploid nucleus?

A

Mitotic telophase ONLY

note: “diploid nucleus!”

32
Q

When do sister chromatids align?

A

meiotic metaphase I
meiotic metaphase II
mitotic metaphase

33
Q

What event would most likely result in Turners?

A

Chromosome lag during cell division in the developing embryo

34
Q

What happens in Anaphase Lag?

A

one chromosome does not move properly to its designated pole of the cell and as a result, that chromosome is most likely LOST

35
Q

What is the recurrent pregnancy risk of a a 25-year old woman who gave birth to a newborn with trisomy 21?

A

Increased risk

note: said “population-risk” not age specific!

36
Q

How many chromosomes does the carrier of a Robertsonian Trans-location have?

A

45

37
Q

What are the most common Roberstsonian Translocations?

A

14 & 21

38
Q

Who is more likely to be the source of a translocation in a baby?

A

Mother

Dad’s sperm likely weren’t able to make it if they were abberrant

39
Q

When do we use the term “trisomy”

A

when there are 3 freestanding chromosmes that are repeated.

We could have a section of a chomosome which would be mosaic

40
Q

What does microarray demonstrate?

A

Inbalances in chromosomal copies

LOOKS FOR INBALANCES

41
Q

When is microarray not good?

A

not good for sorting out whether there is a balanced translocation in the family

42
Q

Is Autosomal Dom always 50-50?

A

No, Penetrance comes into play.

43
Q

What chemical interactions stabilize DNA?

A

Stability of DNA is due to
(1) phosphodiester bond

(2) Watson-Crick base pairing
(3) hydrophobic interactions between the interior nitrogenous bases

44
Q

For inversion carriers, the risk of carriers having live-born offspring with unbalanced karyotypes is …

A

5-10%

45
Q

A 25-year old woman gives birth to a newborn with trisomy 21. Compared to the rest of the population what is her risk of repeat?

A

Increased!

Data confirm that the recurrence risk of trisomy 21 to a mother at or below 30 years of age is increased to 1-2%

46
Q

A 41-year old woman had a spontaneous abortion due to trisomy 13. What is the risk that she will have another pregnancy with a trisomy?

A

Same as age related risk

47
Q

A woman is a carrier for the t(21;21) translocation. What is risk of of having a DS child?

A

100%

Her only only chromosome 21 is actually two in one.

48
Q

A parent with an inversion will have what risk of having a child with an inversion?

A

A parent with an inversion will have a 5-10% risk of having a child with an inversion.

49
Q

A family seeks your urgent advice. The 30-year old woman is pregnant and she is concerned because her brother has Down syndrome. As her family doctor, which of the following would you recommend as the first appropriate step?

A

Get the affected brother’s karyotype!

If the brother has a ‘normal’ (trisomy 21) DS karyotype, the woman’s fetus does not have an increased risk of DS. If the brother has DS because of a translocation, the fetus may be at increased risk.

50
Q

A newborn was suspected to have Prader-Willi syndrome, a microdeletion syndrome. Which type of cytogenetic testing would MOST LIKELY be ordered to determine whether the patient has this deletion?

A

FISH & G banding

51
Q

Cell division is completed when which step is finished?

A

Cytokinesis

52
Q

Cri due Chat is caused by …

A

deletion of chromosome 5p

53
Q

What is used to diagnose Cri due Chat ?

A

FISH

we just need to know if there is 1 missing!
G-banding not required

PRIN (13 decks)

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