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BAMS 1010 > Chromosomal Abnormalities > Flashcards

Chromosomal Abnormalities Flashcards

1
Q

What are gametes derived from?

A

Primordial germ cells (PGCs)

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2
Q

When are PGCs formed?

A

The second week of development

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3
Q

Where do PGCs migrate to and through what?

A

The migrate through the primitive streak to the wall of the yolk sac

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4
Q

What is gametogenesis?

A

The process by which sex cells (gametes) are developed

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5
Q

What is cytodifferentiaition?

A

The development of specialized cells (eg nerve cells) from undifferentiated precursors.

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6
Q

What are tetratomas?

A

These are tumors that contain a variety of tissues that are formed by the germ layers including Hair, muscle, gut epithelia and bone etc

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7
Q

How many chromosomes do normal humans have?

A

46 chromosomes, 44 of which are autosomes and 2 of which are sex chromosomes that determines an individuals sex

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8
Q

What do we call genes on the same chromosome?

A

Linked genes

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9
Q

What does fertilization do in terms of chromosomes?

A

Restores the diploid number of 46 due to the fact that gametes only have 23

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10
Q

What is synapsis?

A

Process by which homologous chromosomes align themselves in pairs

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11
Q

What is crossing over/crossover?

A

This is the interchange of chromatid segments between paired homologous chromosomes.

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12
Q

What is chiasma?

A

X - like structure formed by chromosomes

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13
Q

How is genetic variability enhanced?

A

Crossover and random distribution of homologous chromosomes

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14
Q

What is a polar body?

A

A daughter cell of a primary oocyte that didn’t mature into a gamete

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15
Q

What are the most common chromosomal abnormalities?

A

45,X (Turner Syndrome), Triploidy and Trisomy 16

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16
Q

What are the two types of chromosomal abnormalities ?

A

Numerical and Structural

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17
Q

What does Euploid mean?

A

Exact multiple of n

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18
Q

Aneuploid meaning?

A

When the chromosome number isn’t a multiple of n so like an extra chromosome for example

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19
Q

What is the term used to describe an extra chromosome?

A

Trisomy

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20
Q

What is monosomy?

A

Where a chromosome is missing

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21
Q

What are some causes for Numerical abnormalities?

A

Nondisjunction and translocation

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22
Q

Describe the process of nondisjunction.

A

Nondisjunction refers to the failure of chromosomal division during meiosis. Which results in two daughter cells having an extra chromosome while two have one less

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23
Q

What increases with age?

A

The incidence of chromosomal abnormalities

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24
Q

What is translocation?

A

The process by which chromosomes break and pieces of one chromosome, may attach to another.

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25
Q

What type of translocation doesn’t result in chromosomal abnormality?

A

Balanced

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26
Q

What translocation can cause Down syndrome?

A

Translocation of 14 and 21 that produces an extra copy of chromosome 21

27
Q

What causes Down Syndrome?

A

Trisomy 21 - an extra copy of chromosome 21

28
Q

What are the features of Down Syndrome?

A

Growth retardation, intellectual disability, cardio facial abnormalities, upward slanting eyes, small ears, cardiac defects and hypotonia

29
Q

What diseases are individuals with Down syndrome prone to?

A

Leukemia, infections, premature aging and increased risk/frequency of earlier onset Alzheimer’s disease.

30
Q

What are features of trisomy 18?

A

Intellectual Disability, Congenital heart defects, low set ears and Flexion of fingers and hands (), Micrognathia, syndactlyly and malformation of the skeletal system

31
Q

What are the features of trisomy 13?

A

Cleft lip and palate, Deafness, Congenital heart defects, microphthalmia, anophthalmia and Coloboma

32
Q

What is Klinefelter Syndrome?

A

Where males have 47 chromosomes with a sex complement of XXY or 48 with a sex compliment of XXXY

33
Q

What is Turner Syndrome?

A

45, X karyotope

34
Q

What is a unique feature of turner syndrome?

A

It is the only monosomy compatible with life.

35
Q

What are common features of Turner Syndrome?

A

Webbed Neck, broad chest, widely set nipples, gonadal dysgenesis in females etc

36
Q

What is Triple X Syndrome?

A

47, XXX normally undiagnosed and characterized with problems with speech and self esteem

37
Q

Name some structural abnormalities.

A

Angelman Syndrome and Prader-Willi syndrome and Cri-du-chat syndrome

38
Q

What are structural abnormalities caused by?

A

Chromosome breakage and lost also known as deletion

39
Q

What are sites of Microdeletions called?

A

Contiguous gene complexes

40
Q

What are contiguous gene complexes incentivized with?

A

Fluorescence in situ hybridization

41
Q

What does FISH stand for?

A

Fluorescence in situ hybridization

42
Q

What is Angelman Syndrome caused by?

A

The microdeletion of the long arm of chromosome 15 so 15q11 - 15q13 is gone

43
Q

“q” means?

A

long arm

44
Q

“p” means ?

A

Short arm

45
Q

Features of Angelman syndrom?

A

Intellectual disability, can’t speak , poor motor development, prolonged unprovoked periods of laughter… on maternal chromosome btw

46
Q

What is the name of Trisomy 18?

A

Edward’s Syndrome

47
Q

What is the name of Trisomy 16?

A

Mosaic

48
Q

What is the name of Trisomy 13?

A

Patau Syndrome

49
Q

What are features of Klinefelter Syndrome?

A

Smaller testicles, lower testosterone production, less muscle mass, reduced body and facial hair, enlarged breast tissue

50
Q

What is the cause of cri-du-chat syndrome?

A

Partial deletion of short arm of chromosome 5

51
Q

Features of cri-du-chat syndrome?

A

Cat like cry, microcephaly, intellectual disability, congenital heart disease

52
Q

What causes Prada-Willi syndrome?

A

Microdeletion of chromosome 15; on the paternal chromosome

53
Q

What are fragile sites?

A

Regions of chromosomes that demonstrate a propensity to separate or break under certain cell manipulations.

54
Q

What do fragile sites consist of ?

A

CGG repeats

55
Q

In which gene do fragile sites end in altered phenotype?

A

FMRI gene

56
Q

What is the name of syndrome of the long arm of chromosome X- Xq27?

A

Fragile X syndrome

57
Q

What are recessive mutations?

A

If both alleles have to be abnormal or X linked and occurs in males to cause an abnormality

58
Q

What are dominant mutations?

A

If a mutant gene produces abnormality in a single dose despite the presence of a normal allele.

59
Q

What is mosaicism?

A

When an individual has one more than one genetically distinct cell line

60
Q

What can happen in germ line mosaicism?

A

A parent may not express the abnormality but can pass it on to their offspring

61
Q

What is cytogenetic analysis used to do?

A

Assess chromosome number and integrity?

62
Q

How are chromosomes stained?

A

Giemsa-stained

63
Q

What is exome sequencing ?

A

Approach to find mutations and polymorphisms in which coding regions (exons) in the genome are sequenced?

BAMS 1010 (13 decks)

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