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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
Two arms have fused together to form a ring
Ring chromosome
30
Ring chromosome 20
Epilepsy
31
Ring X chromosome
Turner syndrome
32
What causes ring chromosome
Deletion of two telomeres
33
Dense staining structure seen in the nuclei of a female mammals
Barr body
34
Missing or extra chromosome | Not a good set
Aneuploidy
35
Structural rearrangement involving 2 non homologous chromosomes
Translocation
36
Two segments from two different chromosome have been exchanged
Reciprocal translocation
37
Involves reciprocal transfer of the long arms of two acrocentric chromosome
Robertsonian translocation
38
Inactivated X chromosome
Barr body
39
Diagram for a family tree
Pedigree
40
Shape for male? Female? Unknown?
Male-square Female-circle Unknown-diamond
41
Parents are connected via
Horizontal lines
42
Parents to offspring
Vertical line
43
Connect siblings
Sibship line
44
Arrangement of siblings
Left to right | Oldest to youngest
45
Siblings are numbered using
Arabic numerical
46
Generation are numbered using
Roman numerals
47
Horizontal line with diagonal line
Monozygotic or identical twin
48
Diagonal line without horizontal
Dizygotic or fraternal twins
49
Question trait truly expressed by the individual
Fully shades
50
Half filled
Carrier
51
Adopted child
Broken lines
52
Single abnormal allele is sufficient to cause disease despite the presence of normal allele
Autosomal dominant disease
53
Autosomal dominant trait with complete penetrance
Achondroplasia
54
Achondroplasia is the most common cause of?
Dwarfism
55
Negative regulatory effect of bone growth
Fibroblast growth factor receptor gene 3
56
Hereditary motor and sensory neuropathy
Charcot Marie tooth disease
57
CMT type 1a is defect in what chromosome?
17p
58
Individual who has inherited two abnormal alleles at a given locus by receiving one mutant allele from each carrier parents
Autosomal recessive disease
59
Percentage of hereditary if both parents are carriers
25% normal 50% carrier 25% affected
60
Most common fatal autosomal recessive disorder in caucasian population
Cystic fibrosis
61
A multisystem disorder affecting the cells that produce mucus, sweat, saliva and digestive juices
Cystic fibrosis
62
CF gene is located in
7q
63
Characterized by excess iron deposition in otherwise healthy tissue
Hereditary hemochromatosis
64
Regulates the amount of iron absorbed from food
Hemochromatosis type 1 gene
65
Mutant allele resides on the X chromosome
X linked disease
66
Carriers of X linked disease with one normal and one mutant but typically not affected
Females
67
Received mutant allele from the mothers
Male
68
Carrier female of X linked disease has?
25% transmitting normal allele to son 25% affected son 25% transmitting normal allele to daughter 25% affected daughter
69
An X linked recessive bleeding disorder caused by a deficiency of factor VIII
Hemophilia A
70
Gene in hemophilia A is located in
Xq28
71
Characterized by progressive skeletal muscle wasting
Duchenne muscular dystrophy
72
Chromosome in Duchenne muscular dystrophy
Xp21
73
One of the most common inherited from mental retardation
fragile X syndrome
74
Expansion of CGG repeats
Fragile x syndrome
75
Full mutations in fragile x
>200 CGG repeats
76
Chromosome has lost one of its arms and this arm is replaced with an exact copy of a chromosome segment including the centromere
Isochromosome
77
Ring chromosome 15
Mental retardation Dwarfism Microcephaly
78
Resulting to invisible alteration in chromosomes
Chromosomal abnormality
80
Breaks occur in both short and long arms. Inverted segment include the centromere
Pericentric
81
Multiple chromosome set. | Abnormal genetic event
Polyploidy

Cytogenetics (1 decks)

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