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Cytogenetics > Chromosomal Abnormalities > Flashcards

Chromosomal Abnormalities Flashcards

1
Q

Type of myxoploidy that came from the same zygote

A

Mosaicism

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2
Q

Causes of chromosomal abnormality

A
  • misrepair in broken chromosome
  • improper recombination
  • malsegregation during mitosis and meiosis
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3
Q

Cause by Abnormal fertilization. Abnormal event during early embryo

A

Constitutional abnormalities

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4
Q

Not all cells are affected

A

Acquired or somatic abnormalities

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7
Q

Complete sets of chromosomes. Good set

A

Euploid

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8
Q

Multiple cell line coming from different zygote

A

Chimerism

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9
Q

Missing pair of homologs

. Chromosome 6

A

Nullisomy

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10
Q

One chromosome are missing

A

Monosomy

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11
Q

Extra chromosome

A

Trisomy

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12
Q

Example of polyploidy

A

Mosaic triploidy

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13
Q

All cells are affected

A

Constitutional abnormalities

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14
Q

Failure of paired chromosome to separate during anaphase 1

A

Nondysjunction

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15
Q

Nondysjunction in meiosis

A

Trisomic

Monosomic

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16
Q

Inverted segment is on the long or short arm. Do not involve the centromere

A

Paracentric

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18
Q

Nondysjunction in mitosis

A

Mosaicism

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19
Q

Result of a delayed movement during anaphase

A

Anaphase lag

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20
Q

This substance recognize and repair broken chromosome ends

A

Enzymes

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21
Q

Prevent cells with unpaired chromosome breaks from entering mitosis

A

Cell cycle checkpoint mechanism

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22
Q

An extra chromosomal segment within the same homologous chromosomes

A

Duplication

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23
Q

Example of duplication wherein chromosome 17 duplicates

A

Charcot marie tooth disease type 1A

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24
Q

Ring chromosome 13&14

A

Mental retardation

Dysmorphic facial features

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25
Q

Portion of the chromosome has broken off turned upside down and reattached

A

Inversions

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26
Q

Loss of a segment of a chromosome

A

Deletion

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27
Q

Telomere is missing

A

Terminal deletion

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29
Q

Two arms have fused together to form a ring

A

Ring chromosome

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30
Q

Ring chromosome 20

A

Epilepsy

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31
Q

Ring X chromosome

A

Turner syndrome

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32
Q

What causes ring chromosome

A

Deletion of two telomeres

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33
Q

Dense staining structure seen in the nuclei of a female mammals

A

Barr body

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34
Q

Missing or extra chromosome

Not a good set

A

Aneuploidy

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35
Q

Structural rearrangement involving 2 non homologous chromosomes

A

Translocation

36
Q

Two segments from two different chromosome have been exchanged

A

Reciprocal translocation

37
Q

Involves reciprocal transfer of the long arms of two acrocentric chromosome

A

Robertsonian translocation

38
Q

Inactivated X chromosome

A

Barr body

39
Q

Diagram for a family tree

A

Pedigree

40
Q

Shape for male? Female? Unknown?

A

Male-square
Female-circle
Unknown-diamond

41
Q

Parents are connected via

A

Horizontal lines

42
Q

Parents to offspring

A

Vertical line

43
Q

Connect siblings

A

Sibship line

44
Q

Arrangement of siblings

A

Left to right

Oldest to youngest

45
Q

Siblings are numbered using

A

Arabic numerical

46
Q

Generation are numbered using

A

Roman numerals

47
Q

Horizontal line with diagonal line

A

Monozygotic or identical twin

48
Q

Diagonal line without horizontal

A

Dizygotic or fraternal twins

49
Q

Question trait truly expressed by the individual

A

Fully shades

50
Q

Half filled

A

Carrier

51
Q

Adopted child

A

Broken lines

52
Q

Single abnormal allele is sufficient to cause disease despite the presence of normal allele

A

Autosomal dominant disease

53
Q

Autosomal dominant trait with complete penetrance

A

Achondroplasia

54
Q

Achondroplasia is the most common cause of?

A

Dwarfism

55
Q

Negative regulatory effect of bone growth

A

Fibroblast growth factor receptor gene 3

56
Q

Hereditary motor and sensory neuropathy

A

Charcot Marie tooth disease

57
Q

CMT type 1a is defect in what chromosome?

A

17p

58
Q

Individual who has inherited two abnormal alleles at a given locus by receiving one mutant allele from each carrier parents

A

Autosomal recessive disease

59
Q

Percentage of hereditary if both parents are carriers

A

25% normal
50% carrier
25% affected

60
Q

Most common fatal autosomal recessive disorder in caucasian population

A

Cystic fibrosis

61
Q

A multisystem disorder affecting the cells that produce mucus, sweat, saliva and digestive juices

A

Cystic fibrosis

62
Q

CF gene is located in

A

7q

63
Q

Characterized by excess iron deposition in otherwise healthy tissue

A

Hereditary hemochromatosis

64
Q

Regulates the amount of iron absorbed from food

A

Hemochromatosis type 1 gene

65
Q

Mutant allele resides on the X chromosome

A

X linked disease

66
Q

Carriers of X linked disease with one normal and one mutant but typically not affected

A

Females

67
Q

Received mutant allele from the mothers

A

Male

68
Q

Carrier female of X linked disease has?

A

25% transmitting normal allele to son
25% affected son
25% transmitting normal allele to daughter
25% affected daughter

69
Q

An X linked recessive bleeding disorder caused by a deficiency of factor VIII

A

Hemophilia A

70
Q

Gene in hemophilia A is located in

A

Xq28

71
Q

Characterized by progressive skeletal muscle wasting

A

Duchenne muscular dystrophy

72
Q

Chromosome in Duchenne muscular dystrophy

A

Xp21

73
Q

One of the most common inherited from mental retardation

A

fragile X syndrome

74
Q

Expansion of CGG repeats

A

Fragile x syndrome

75
Q

Full mutations in fragile x

A

> 200 CGG repeats

76
Q

Chromosome has lost one of its arms and this arm is replaced with an exact copy of a chromosome segment including the centromere

A

Isochromosome

77
Q

Ring chromosome 15

A

Mental retardation
Dwarfism
Microcephaly

78
Q

Resulting to invisible alteration in chromosomes

A

Chromosomal abnormality

80
Q

Breaks occur in both short and long arms. Inverted segment include the centromere

A

Pericentric

81
Q

Multiple chromosome set.

Abnormal genetic event

A

Polyploidy

Cytogenetics (1 decks)

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