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BPM1 Exam 2 - Foundations to Medicine 2 > FTM 54-55 - Cytogenetics 1 & 2 > Flashcards

FTM 54-55 - Cytogenetics 1 & 2 Flashcards

1
Q

What letter designation is given to the long and short arms of a chromosome?

A

p - short arm

q - long arm

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2
Q

Define Euploidy and Aneuploidy

A
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3
Q

What are the chromosomal aneuploidy syndromes we need to know?

A
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4
Q

Facts to know about Down Syndrome

A
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5
Q

What are epicanthal folds?

A
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6
Q

What is a palpebral fissure?

A
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7
Q

Facts to know about Edward Syndrome.

A
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8
Q

What are rocker bottom feet?

A

Feet where the arch of the foot is convex instead of concave, like the legs of a rocking chair.

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9
Q

Facts to know about Patau syndrome

A
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10
Q

What is microphthalmia?

A

A developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations.

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11
Q

Facts to know about turner syndrome

A
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12
Q

What is amenorrhea?

A

The absence of menstruation — one or more missed menstrual periods. Women who have missed at least three menstrual periods in a row have amenorrhea, as do girls who haven’t begun menstruation by age 15.

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13
Q

What can cause Turner Syndrome besides nondisjunction?

A
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14
Q

Facts to know about Klinefelter syndrome

A
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15
Q
A

3

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16
Q

When and where is nondisjunction most common?

A

During meiosis-I in females

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17
Q

What types of nondisjunction can cause Klinefelter syndrome, an XYY syndrome, and triple X syndrome?

A
18
Q

What causes mosaicism?

A

Post-zygotic non-disjunction (during embryonic development)

19
Q
A

B

20
Q

List and describe the types of structural chromosomal abnormalities.

A

Reciprocal Translocation - exchange of genetic material between non-homologous chromosomes

Robertsonian Translocation - when the participating chromosomes break at their centromeres and the long arms fuse to form a single, large chromosome with a single centromere. Usually occurs with the acrosomal chromosomes

Deletions

Inversions - a segment of a chromosome is reversed end to end

Isochromosomes - one arm is lost and the other is duplicated

Ring Chromosomes - the terminal portions of a chromosome fuse

21
Q

What are some common consequences of a reciprocal translocation?

A

When it occurs in somatic cells there is an increased risk of the cells becoming cancerous or there may be no effect at all

When it occurs in germ line cells there is a higher risk for spontaneous abortions in the carrier

22
Q

What are some common ways that a reciprocal translocation can lead to cancer?

A
23
Q
A

2

24
Q

Which chromsomes are acrocentric?

A

13, 14, 15, 21, 22

25
Q

Describe how a robertsonian translocation takes place.

A
26
Q

Is robertsonian translocation balanced or unbalanced?

A

Either it depends on how the chromosomes segregate during meiosis

27
Q

What are the effects of Robertsonian translocations on gametes?

A
28
Q
A

2

29
Q

What causes Cri du chat syndrome? How is it diagnosed? What are its symptoms?

A

Cri-du-chat syndrome is caused by a large deletion (>4 Mb) on the 5th chromosome. It can be diagnosed using FISH or Array CGH. Its symptoms include a high pitched cat-like cry, severe intellectual disability, speech problems, and microcephaly.

30
Q

What causes DiGeorge syndrome? How is it diagnosed? What are its symptoms?

A

It is caused by a microdeletion of chromosome 22q. It can be diagnosed via FISH using locus specific probes or by array CGH. Common symptoms are congenital heart defects, absence of thymus, cleft lip & palate, and learning disability.

31
Q

What causes Wolf-Hirschhorn Syndrome? What are its symptoms?

A

A large deletion on chromosome 4. Common symptoms are widely spaced eyes, prominent nose, abnormal iris, cardiac anomalies, and intellectual/developmental delay.

32
Q

What causes WAGR syndrome? What are its symptoms?

A

WAGR syndrome is caused by a microdeletion on chromosome 11. Its common symptoms lend the disease its name: Wilms’ tumor, aniridia (the absence of the iris), genitourinary malformations, and retardation of growth/development.

33
Q

Facts to know about the genetics of Angelman Syndrome and Prader-Wili Syndrome.

A
34
Q

What are the symptoms of Prader-Willi syndrome and Angelman syndrome?

A
35
Q

What are pericentric and paracentric inversions?

A

Pericentric inversions involve the centromere and paracentric inversions do not.

36
Q

Are inversions usually balanced or unbalanced? What does this mean clinically?

A

They are usually balanced meaning there are typically no clinical problems

37
Q

How can inversions be detected and why?

A
38
Q

What are the effects of chromosomal inversions during crossover in meiosis?

A
39
Q
A

1

The mother failed to separate 1 and 2 which means meiosis 1 nondisjunction

40
Q
A

BPM1 Exam 2 - Foundations to Medicine 2 (29 decks)

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