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Molecules to Cells > Chromosomes and Chromosomal Abnormalities > Flashcards

Chromosomes and Chromosomal Abnormalities Flashcards

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Organic Chemistry 101 flashcards
1
Q

What is the name for the short arm of a chromosome?

A

p

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2
Q

What is the name for the long arm of a chromosome?

A

q

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3
Q

What is a metacentric chromosome?

A

Centromere at mid point

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4
Q

What is a submetacentric chromosome?

A

Smaller p than q arm

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5
Q

What is an acrocentric chromosome?

A

Virtually no p arm

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6
Q

What is the difference between dark bands and light bands on karyotypes?

A

Dark bands = gene poor heterochromatin

Light bands = gene rich euchromatin

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7
Q

How many genes can be in a single band?

A

As many as 50+!

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8
Q

What characteristics are used to identify chromosomes?

A
  1. Size
  2. Centromere position
  3. Banding pattern
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9
Q

What are 2 ways in which you can get double copies of chromosomes (tetraploidy)?

A
  1. Furrow recession during cytokinesis

2. Multiple fertilization

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10
Q

Nondisjunction tends to be associated with _________.

A

Advanced maternal age oocytes

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11
Q

As many as ___% of spontaneous abortions are due to chromosomal abnormalities.

A

50%

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12
Q

Noninvasive prenatal screening is helpful for detecting what?

A

Trisomy 13, 18, 21

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13
Q

The majority of nondisjunction events occur in _____.

A

Meiosis I

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14
Q

How does FISH work?

A

Make a probe complementary to a known unique sequence to identify aneuploidy.

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15
Q

How do microarrays work?

A

Probes are fixed to a slide in unique positions and you wash the sample over the slide.

Make a hybrid of green (control) and red (fetal)

Measures the quantity of DNA…every spot SHOULD be yellow (red + green)

Red or green shows excess or loss of a gene

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16
Q

What is another name for Trisomy 18?

A

Edwards Syndrome

17
Q

What are classic Trisomy 18 symptoms?

A

Rockerbottom feet
Clenched first 2nd and 3rd digits overlapping
Mental retardation, cardiac malformations

18
Q

What is another name for Trisomy 13?

A

Patau syndrome

19
Q

What are classic Trisomy 13 symptoms?

A

Body patterning is off:

Bilateral cleft lip
Mental retardation
Midline defects: cyclopia, absence of eyes
Congenital heart and urogenital defects

20
Q

what does t(14;21) indicate in a karyotype?

A

translocation between chromosomes 14 and 21

21
Q

What is a Robertsonian translocation?

A

Translocation involving acrocentric chromosomes

22
Q

What are common Trisomy 21 symptoms?

A 
Hypotonia
Short stature
Flat nose
Palmar crease
Mental retardation
Congenital heart defects
Early onset Alzheimers
23
Q

What are common symptoms of Turner syndrome?

A 
Webbed neck
Short stature
Amenhorrea
Gonadal dysgenesis
Infertility
24
Q

What is the genotype of patients with Turner syndrome?

A

45, X

25
Q

What are symptoms of Kleinfelter Syndrome?

A

Long limbs
Hypogonadism
Gynecomastia
Behavioral problems

26
Q

What is a parAcentric inversion?

A

A block of DNA on a chromosome that moves AWAY from the centromer

27
Q

What is a perIcentric inversion?

A

A block of DNA that moves INVOLVING the centromere

28
Q

What is a consequence of paracentric inversion?

A

Unbalanced offspring and genomic instability

29
Q

What is a consequence of pericentric inversion?

A

Unbalanced offspring

30
Q

What is spectral karyotyping (SKY)?

A

Individual probe sets labelled in 24 different colors–makes it easy to determine origin of extra DNA and for translocations

31
Q

What test is especially useful for detecting translocations?

A

Spectral karyotyping

32
Q

What is a Philadelphia chromosome?

A

bcr-abl fusion protein formed due to a reciprocal translocation between chromosomes 9 and 22

33
Q

What disease develops from the formation of a Philadelphia Translocation

A

Chronic Myelogenous Leukemia

34
Q

In the case of defective x chromosomes, what are the priorities for inactivation/preservation?

A
  1. Preserving activity of one x-chromosome equivalent

2. Preserving autosomal sequences

35
Q

Can some genes escape X inactivation?

A

Yes

36
Q

What is cri du chat?

A

5p 15 deletion

37
Q

What are the symptoms of Cri du chat?

A 
Cat cry
Mental retardation
Microcephaly
Epicanthal folds
Low set ears
Heart defects

Molecules to Cells (34 decks)

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