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Cell Biology and Genetics > Chromosomal abnormalities > Flashcards

Chromosomal abnormalities Flashcards

1
Q

What is cytogenetics?

A

Study of genetic makeup of cells through imaging of chromosomes

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2
Q

Why is cytogenetics done?

A

Accurate diagnosis

Future reproductive risks

Prenatal diagnosis

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3
Q

What are some examples as to why somebody may be referred to cytogenetics?

A

Birth defects

Infertility

Frequent miscarriages

Cancers

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4
Q

What are some examples of birth defects?

A

Congenital malformations

Mental retardaton
Developmental delay

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5
Q

How are chromosomes assessed on a visual karyotype?

A

Look at banding pattern

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6
Q

What is the genetic cause of Down syndrome?

A

Trisomy 21

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7
Q

What is the genetic cause of Edward syndrome?

A

Trisomy 18

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8
Q

What is the genetic cause of Patau syndrome?

A

Trisomy 13

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9
Q

What is the genetic cause of Turner syndrome?

A

45, X

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10
Q

Why do people with Turner syndrome manage to survive?

A

Because even in normal females, one X chromosome is inactivated, only one is active

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11
Q

What is polyploidy?

A

Gaining a whole haploid set of chromosomes

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12
Q

How many chromosomes are there altogether in polyploidy?

A

69

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13
Q

What is the main cause of polyploidy?

A

Polyspermy

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14
Q

What is polyspermy?

A

When one egg is fertilised by more than one sperm

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15
Q

What is anaphase lag?

A

Refers to how chromosome can be left behind at anaphase stage of cell division

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16
Q

What are the causes of anaphase lag?

A

Defects in spindle attachment to chromosomes

Defects in spindle function

17
Q

What happens to the lagging chromosome in anaphase lag?

A

Lost entirely

18
Q

What are some of the symptoms and signs of Down syndrome +21?

A

Characteristic facial features

Heart defects

Hypotonia

Intellectual disablity

19
Q

What are some of the symptoms and signs of Edwards syndrome +18?

A

Overlapping fingers
Rocker bottom feet

Prominent occipit
Small lower jaw
Low-set ears

20
Q

Is Edwards syndrome more common in male or females?

A

Females

21
Q

What is the lifespan of a baby with Edwards syndrome?

A

Approx. 2 weeks

22
Q

What are some of the symptoms and signs of Patau syndrome +13?

A

Polydactyly

23
Q

What is the lifespan of a baby with Patau syndrome?

A

Most die as newborns

24
Q

Why does having only one X chromosome cause problems in Turner syndrome?

A

Some genes are not inactivated in the second X chromosome

Individuals with Turner syndrome lack these genes

25
Q

What are the signs and symptoms of Turner syndrome?

A

Short stature

Neck webbing

Puffy feet

Infertility

26
Q

What is a reciprocal translocation?

A

Small part of two chromosomes broken off

swapped over

27
Q

How are the gametes of somebody with a reciprocal translocation affected?

A

May be balanced

May be unbalanced

28
Q

What is meant by balanced?

A

All genetic material is present

29
Q

What is meant by unbalanced?

A

Some genetic material is extra or missing

30
Q

What is a Robertsonian translocation?

A

Two acrocentric chromosomes fused together

31
Q

How many chromosomes do people with a Robertsonian translocation have?

A

45

32
Q

What is formed in meiosis in people with a Robertsonian translocation?

A

Trivalent - three chomrosomes

gives risk of aneuploidy

33
Q

What will the phenotype of the unbalanced gamete depend on?

A

Which regions show monosomy and trisomy

34
Q

What are the different types of FISH probes?

A

Gene specific probes

Centromere probes

Telomere probes

Whole chromosome paints

35
Q

What are gene specific FISH probes used for?

A

Identify microdeletions

36
Q

What are centromere FISH probes used for?

A

Identify chromosome of origin

37
Q

What are whole chromosome paints in FISH used for?

A

Identify chromosomal rearrangement

38
Q

What can microarray comparative genomic hybridisation not detect?

A

Balanced rearrangements

39
Q

What is formed in prophase 1 of meiosis in people with Reciprocal translocations?

A

Quadrivalent - four chromosomes

Cell Biology and Genetics (32 decks)

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