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2C FINALS > CYTOGEN > Flashcards

CYTOGEN Flashcards

1
Q

refers to differences between members of the same species or those of different species

A

GENETIC VARIATION

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2
Q

are substantial changes in the chromosome structure

A

Chromosomal Aberrations

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3
Q

primary ways in which the structure of chromosomes can be altered

A

Changes in total Amount of Genetic Information

Rearrangement

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4
Q

Decrease in Genetic Information

A

Deficiencies/ Deletions

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5
Q

increase in Genetic Information

A

Duplications & Insertions

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6
Q

Rearrangement of Genetic Information

A

Inversions, Translocations

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7
Q

– involve loss of material from a single chromosome. The effects are typically severe
since there is a loss of genetic material

A

DELETION

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8
Q

-Mis-division of the centromere

A

DELETION

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9
Q

-Deletions do ____________ because the DNA is gone (degraded)

A

not revert

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10
Q

It involves a single break and the terminal part of the chromosome is lost

A

Terminal Deletion

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11
Q

Can occur due to errors in cell division or because of environmental factors like radiation, chemicals, or viral infection

A

Terminal Deletion

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12
Q

resulting from terminal deletion of
part of the short arm of chromosome 5

A

Cri-du-chat syndrome (OMIM 123450)

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13
Q

a terminal deletion on the short arm of chromosome 4

A

Wolf-Hirschhorn Syndrome (OMIM 194190)

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14
Q

Deletion that does not involve the terminal parts of a chromosome

A

Interstitial Deletion

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15
Q

causes symptoms including microcephaly, round face, hypertelorism, epicanthal folds, low-set ears, and
micrognathia.

A

Cri-du-chat syndrome (OMIM 123450)

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16
Q

Causes Severe psychomotor and mental retardation

A

Cri-du-chat syndrome (OMIM 123450)

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17
Q

resulting from an interstitial deletion on chromosome 22, leading to a wide range of clinical features, including heart defects, immune system abnormalities, developmental delays, and characteristic facial features

A

DiGeorge Syndrome (OMIM 188400)

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18
Q

A deletion in one allele of a homozygous wildtype organism may give a ______ phenotype

A

normal

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19
Q

deletion in the wild-type allele of a heterozygote would produce a ________ phenotype.

A

mutant

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20
Q

Deletion of the __________ results in an ___________ chromosome that is lost, usually with serious or lethal consequences.

A

centromere, acentric

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21
Q

result from doubling of chromosomal segments, and occur in a range of
sizes and locations

A

DUPLICATION

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22
Q

duplications are adjacent to each other

A

Tandem duplications

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23
Q

duplications result in genes arranged in the opposite order of the original.

A

Reverse tandem duplications

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24
Q

Tandem duplication at the end of a chromosome is a ______________________

A

terminal tandem duplication

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25
Q

duplications are not adjacent to each other

A

non-tandem duplications

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26
Q

Drosophila eye shape allele, _________, that reduces the number of eye facets, giving the eye a slit-like rather than oval appearance

A

Bar

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27
Q

The lack of muscle, a high arch, and claw toes are signs of this genetic disease.

A

Charcot–Marie–Tooth Disease

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28
Q

Charcot–Marie–Tooth Disease is caused by duplication of the gene encoding ________________________
on chromosome ___.

A

peripheral myelin protein 22 (PMP22), 17

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29
Q

Results when a chromosome segment excises and reintegrates oriented 180 degrees from the original orientation

A

INVERSION

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30
Q

There is usually no risk for problems to an individual if the inversion is of __________________

A

familial origin

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31
Q

Most Analyses of inversions use ______________ inversions- diploids in which one chromosome has the standard sequence and one carries the inversion

A

heterozygous

32
Q

inversion that includes the centromere

A

Pericentric Inversion

33
Q

Inversion that does not include the centromere

A

Paracentric Inversion

34
Q

Crossing-over within the inversion loop of a paracentric inversion connects homologous
centromeres in a __________________ while also producing an ____________________—a fragment without a centromere.

A

dicentric bridge, acentric fragment

35
Q

As the chromosomes separate in _________________, the centromeres remain linked by the
bridge, which orients the centromeres so that the ______________ chromatids lie farthest apart.

A

anaphase I, noncrossover

36
Q

Tension eventually breaks the bridge, forming two chromosomes with _________________________

A

terminal deletions

37
Q

The gametes containing such deleted chromosomes may be inviable but, even if viable, the
___________ that they eventually form are inviable.

A

zygotes

38
Q

CONSEQUENCIES OF CHROMOSOME INVERSION IN HUMANS:

A

lowered fertility due to production of unbalanced gametes

39
Q

occurs when a segment of one chromosome is transferred to another chromosome

A

Translocation

40
Q

Involves the rearrangement of parts between non-homologous chromosomes

A

Translocation

41
Q

There are two main types of Translocation:

A
  1. Reciprocal (Balanced) Translocation
    2.Robertsonian (unbalanced) Translocation
42
Q

in _____________ two non/homologues chromosomes exchanged genetic material

A

reciprocal translocations

43
Q

-the transfer of genetic material occurs in only one direction
-are associated with phenotypic abnormalities or even lethality

A

ROBERTSONIAN TRANSLOCATIONS

44
Q
  • In this condition, the majority of chromosome _____ is attached to chromosome ____
  • The individual would have three copies of genes found on a large segment of chromosome 21; Therefore, they exhibit the characteristic of ___________________
A

21, 14, Down Syndrome

45
Q

Breaks occur at the extreme ends of the ________ arms of two non-homologous acrocentric chromosomes.

A

short

46
Q

Robertsonian Translocations are confined to chromosomes _____________ (the acrocentric
chromosomes)

A

13, 14, 15, 21, 22

47
Q
  • Most human malignant tumors have _________________________
  • Most common are _________________
A

chromosomal mutations, translocations

48
Q

is a type of non-Hodgkin lymphoma.
 It develops when the body makes abnormal B-lymphocytes – the lymphoma cells. (Blymphocytes are white blood cells that fight infection)

A

Follicular Lymphoma

49
Q

a structure where a chromosome has lost one of its arms, and the replacement arm is
an exact mirror image of the remaining arm

A

ISOCHROME

50
Q

a structure where a chromosome has lost one of its arms, and the replacement arm is
an exact mirror image of the remaining arm

A

ISOCHROMES

51
Q

development disorder that affects any parts of the body
- Characterized by extremely weak muscle tone, in in fancy and early childhood intellectual disability, distinctive facial features, sparse hair, areas of unusual skin features, and other birth defects
- extra isochromosome 12p

A

Pallister-Killian mosaic syndrome

52
Q

Transfer of genetic material from Chromosome 14 to 18 in the Bcl2 terminal

A

Follicular Lymphoma

53
Q

Transfer of genetic material myc gene from Chromosome 8 to 14 .

A

Burkitt Lymphoma

54
Q

increased immunoglobin promotter

A

Burkitt Lymphoma

55
Q

organisms which contain balanced ser or sets of chromosomes in any number

A

Euploidy

56
Q

have a single basic set of chromosomes

A

Monoploidy

57
Q

organisms with more than two genomes

A

Polyploid

58
Q

most seedless fruits are ____________

A

Triploid

59
Q

Diploid organisms which are missing one chromosome of a single pair are monosomic with the genomic formula 2n-1

A

Monosomy

60
Q

can be either due to the loss of one or more chromosomes (hypoploidy) or due to addition of one or more chromosomes to the complete
chromosome set (hyperploidy)

A

Aneuploidy

61
Q

An organism which has lost a chromosome pair is a nullosomic. The nullosomic organism has the genomic formula (2n–2).

A

Nullisomy

62
Q

are those diploid organisms which have an extra chromosome (2n +1)

A

Trisomics

63
Q

The diploid organisms having two extra chromosomes

A

Tetrasomy

64
Q

Known as Trisomy 21

A

Down Syndrome

65
Q

Down’s syndrome is named after the physician _______________________ who first described this genetic defect in 1866 and it was formally called ___________ or
_______________________.

A

J.Langdon Down, mongolism, mongolian idiocy

66
Q

Known as Trisomy 18

A

Edward’s Syndrome

67
Q

Known as Trisomy 13

A

Patau’s Syndrome

68
Q

It is characterized by multiple malformations, primarily low-set ears; small
receding lower jaw; flexed and clenched fingers; cardiac malformations; and
various deformaties of skull, face and feet. Harelip and cleft palate often occurs.
Death takes place around 3 to 4 months of age.

A

Edward’s Syndrome

69
Q

Individuals with ________________ appear to be markedly mentally retarded; have
sloping forehead, harelip and cleft palate. Polydactyly (both hands and feet) is
almost always present; the hands and feet are deformed. Cardiac and various
internal defects (of kidney, colon, small intestine) are common

A

Patau syndrome

70
Q

Known as monosomy 45, X

A

Turner Syndrome

71
Q

Known as 47, XXY

A

Klinefelter’s Syndrome

72
Q

Known as Supermale; 47, XYY

A

XYY Syndrome

73
Q

Known as Superfemale; 47, XXX)

A

XXX Syndrome

74
Q

Gonadala dysgenesis, primary amenorrhoea
 Average intelligence, short webbed neck (pterygium colli); low posterior
hairline; broad/shield chest; palms and feet edema (newborns)

A

Turner Syndrome

75
Q

Tall stature; average intelligence; male psychosocial orientation;
hypoplastic testes, cryptochism; sterility- azoospermia; gynecomastia
(enlargement of breast in male)

A

Klinefelter’s Syndrome

2C FINALS (7 decks)

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