Chromosomal Abnormalities Flashcards

1
Q

Types of Chromosomal Abnormalities

A

Numerical
Structural

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2
Q

Abnormality where this additional number of chromosome

A

Numerical Chromosomal Abnormality

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3
Q

Abnormality where the chromosome pair may have a missing or redundant part of a gene

A

Structural Chromosomal Abnormality

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4
Q

The usual number and sets of chromosomes

A

Euploidy

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5
Q

Th presence of 3 or more complete sets of chromosomes

A

Polyploidy

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6
Q

The presence of additional chromosomes or missing individual chromosomes

A

Aneuploidy

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7
Q

Refers to the number of sets of chromosomes in a cell or an organism

A

Ploidy

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8
Q

Malsegregation of the chromosomes during division

A

Nondisjunction

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9
Q

Abnormal separation or the failure of separation of the chromosome that will result into abnormal chromosome numbers

A

Nondisjunction

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10
Q

Types of Polyploidy

A

Triploidy
Tetraploidy

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11
Q

Type of Polyploidy:

3 sets of chromosomes (23 x 3) (69 chromosomes)

A

Triploidy

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12
Q

Type of Polyploidy:

4 sets of chromosomes (23 x 4) (92 chromosomes)

A

Tetraploidy

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13
Q

Types of Euploidy

A

Monosomy
Trisomy

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14
Q

Type of Euploidy:

One less chromosome (45 chromosomes)

A

Monosomy

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15
Q

Type of Euploidy:

One additional chromosome (47 chromosomes)

A

Trisomy

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16
Q

Examples of syndromes when Aneuploidy Occurs

A

Patau Syndrome (Trisomy 13)
Edwards Syndrome (Trisomy 18)
Down Syndrome (Trisomy 21)
Turner Syndrome
Klinefelter Syndrome (XXY)
Jacob’s Syndrome (XYY)

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17
Q

Trisomy 21 is aka?

A

Down Syndrome

18
Q

An example of Chromosomal Aberration

A

Trisomy 21 (An extra chromosome on the 21st chromosome)

19
Q

Trisomy 18 is aka?

A

Edward’s Syndrome

20
Q

Average life span of infant with Edward’s Syndrome

A

2-4 months

21
Q

Trisomy with highest mortality

A

Trisomy 13

22
Q

Trisomy 13 is aka?

A

Patau Syndrome

23
Q

Most aborted infant Triosomy disorder

A

Trisomy 13

24
Q

Average lifespan of infants with Patau Syndrome

25
Having one fewer chromosome in each body cell
Monosomy
26
Example of Monosomy
Turner's Syndrome
27
Syndrome where there is only one sex chromosome (Only X)
Turner's Syndrome
28
Types of Sex-Linked Trisomy
Klinefelter Syndrome Jacob's Syndrome
29
Disorder where there is nondisjunction of the X chromosome; Males have an extra X chromosome (XXY)
Klinefelter Syndrome
30
Infertility in Klinefelter Syndrome results from?
Azoospermia
31
Complete absence of sperm
Azoospermia
32
"Super Male" syndrome; There is an extra Y chromosome (XYY)
Jacob's Syndrome
33
Shorthand of Down Syndrome
47, XX/XY, +21
34
Incidence of Down Syndrome
1/750-800
35
Shorthand of Edward Syndrome
47, XX/XY, +18
36
Incidence of Edward Syndrome
1/6,000-11,000
37
Shorthand of Patau Syndrome
47, XX, +13
38
Incidence of Patau Syndrome
1/15,000
39
Incidence of Turner Syndrome
1/5,000
40
Shorthand of Klinefelter Syndrome
46, XXY
41
Shorthand of Jacobs Syndrome
47, XYY