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MEDI 202 - Genes To Community > Chromosomal Abnormalities & Investigations > Flashcards

Chromosomal Abnormalities & Investigations Flashcards

1
Q

What happens to centromere with age?

A

It becomes smaller

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2
Q

What are chromosomes like in interphase?

A

Longest and thinnest

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3
Q

What are chromosomes like in prophase?

A

Increase in thickness but decrease in length

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4
Q

What are chromosomes like in anaphase?

A

The smallest

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4
Q

What are chromosomes like in metaphase?

A

Very thick, quite short and well spread in the cell

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5
Q

At which stage are chromosomes most easily observed?

A

Metaphase

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6
Q

What are chromosomes composed of?

A

DNA, RNA and protein

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7
Q

What are the three classes of chromosomes?

A

Metacentric, Submetacentric and Acrocentric

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8
Q

What can chromosomal abnormalities cause variation in?

A

Number and structure

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9
Q

What is aneuploidy?

A

Variation in the number of chromosome within a set.
Hyperploidy
Hypoploidy
Polyploidy

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10
Q

What are structural changes of chromosomes?

A

Genetic information can be changed (more or less) or rearranged

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11
Q

What are the two types of mutations?

A

Chromosome mutation and gene mutation

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12
Q

Examples of chromosome mutation?

A

Deletion
Duplication
Inversion
Translocation

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13
Q

Examples of gene mutation?

A

Point mutation: silent, missense, nonsense.
Frame shift: deletion, addition

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14
Q

What are the types of transaction?

A

Reciprocal and Robertsonian

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15
Q

What is reciprocal translation?

A

Segments from two different chromosomes are exchanged

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16
Q

What is Robertsonian translocation?

A

Entire chromosome attaches to another

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17
Q

How are genetic abnormalities detected?

A

Screening tests
Diagnostic tests

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18
Q

Examples of screening tests?

A

Ultrasound
Maternal Serum Screening

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19
Q

When is ultrasound performed?

A

10 to 14 weeks

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20
Q

What are some signs that could portray Down syndrome through ultrasound?

A

Thickening of skin over the back of the fetal neck “nuchal translucency”

21
Q

When is maternal serum screening done?

A

14 to 20 weeks

22
Q

What does MSS screen for?

A

Down syndrome and spina bifida

23
Q

What does MSS measure?

A

HcG (high levels indicate DS)
α-fetoprotein (low levels indicate DS)
unconjugated estriol (low levels indicate DS)

24
Q

Examples of diagnostic testing?

A

Amniocentesis
Chorionic Villus Sampling

25
Q

When is CVS performed?

A

10 to 13 weeks

26
Q

When is amniocentesis performed?

A

16 to 18 weeks

27
Q

What is karyotyping?

A

Study that determines the number and structure of chromosomes and also detects common abnormalities

28
Q

What allows for karyotyping?

A

Parents:
- Mother > 35 years old
- 3 or more miscarriages
- Stillbirths with suspected chromosomal abnormality
- Infertility

Family history of:
- chromosome rearrangement
intellectual disability

Patients with:
- Characteristics of chromosomal syndromes
- Delayed puberty
- Congenital abnormalities
- Ambiguous genitalia

29
Q

Where is the sample for karyotyping collected from?

A

Peripheral blood
Amniotic fluid
Skin fibroblast
Bone marrow cells

30
Q

What is the process of karyotyping?

A
  • Collect cell from individual
  • Induce the cell to divide
  • Stop cell division in metaphase using colchicine
  • Stain chromosomes to make them visible using Giemsa stain
31
Q

Which chromosomes are in Group A?

A

1 to 3, they are the largest and centromere is in the middle

32
Q

Which group are chromosomes 6 to 12 and X in?

A

Group C, mid-size, centromeres located either middle or subterminally

33
Q

Which chromosomes are in Group B?

A

4 and 5, large and centromere is at subterminal region.

34
Q

Which group are chromosomes 13 to 15 in?

A

Group D, mid-size, centromeres located terminally

35
Q

What is Group E?

A

Chromosomes 16 to 18, slightly smaller than D. 16 has centromere in middle, 17 and 18 at more distal regions

36
Q

Which chromosomes are in Group G?

A

21, 22 and Y, Y is longer than 21 and 22

37
Q

What is Group F?

A

19 to 20, short chromosomes, centromere in the middle

38
Q

What are the different kinds of Down syndrome?

A

Trisomy 21, Translocation trisomy 21, Mosaic Trisomy 21

39
Q

What are some clinical features of DS?

A

Upslanting eyes
Epicanthic folds
Flat nasal bridge
Low-set small ears,
Short neck,
Abnormal teeth

Short broad hands,
Transverse palmar crease
Space between the first and second toea

40
Q

What are some other issues that come along DS?

A

Intellectual disability
Dementia
Heart Disease
GI Abnormalities
Obesity
Eye Problems
Hearing Loss
Endocrine Disorders
Haematological Disorders

41
Q

What is Turner Syndrome?

A

45 XO

42
Q

Main features of Turner Syndrome?

A

Puffy hands and feet
Webbing of neck
Short stature
Low hairline at the back of the neck
Broad chest, widely spaced nipples
Poorly formed or absent ovaries
Infertility
Learning disabilities

43
Q

What is 47, XXY?

A

Klinefelter syndrome

44
Q

Main features of Klinefelter syndrome?

A

Lower IQ
Tall stature
Poor muscle tone
Reduced secondary sex characteristics
Gynaecomastia
Small testes/infertility
Sparse body hair

45
Q

What happens if there is triploidy, 69 chromosomes?

A

Lethal condition

46
Q

What is Cri-du-Chat?

A

46, XX, del(5)

47
Q

Main features of Cri-du-Chat?

A

High-pitched cry,
Widely set eyes
Low-set ears,
Small jaw,
Downward slanting fissures
Microcephaly,
Intellectual disability

48
Q

What is Edward’s?

A

Trisomy 18

49
Q

What is Patau’s?

A

Trisomy 13

50
Q

What is a chromosomal abnormality caused by duplication?

A

Pallister Killian

51
Q

What causes acute myelogenous syndrome?

A

Translocation, part of 22 moves to 9

MEDI 202 - Genes To Community (23 decks)

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