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Cytogenetics > Numerical Aberrations > Flashcards

Numerical Aberrations Flashcards

1
Q

These are types of chromosomal aberrations.

A

Deletion, duplication, inversion, and translocation.

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2
Q

These are the major chromosomal abnormalities.

A

Numerical and structural abnormalities.

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3
Q

These are abnormalities that have defects on the number of chromosomes.

A

Numerical Abnormalities

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4
Q

This numerical abnormality is of a specific variation in the number of a particular chromosome within a known set.

A

Aneuploidy (Specific)

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5
Q

This numerical abnormality is of a variation in the number of sets of chromosomes.

A

Polyploidy (Varied)

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6
Q

This is a condition of having a normal number of structurally normal chromosomes.

A

Euploidy

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7
Q

This is a condition of any abnormal number of chromosomes that is not 23 pairs.

A

Aneuploidy

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8
Q

This is the failure of a chromosome to separate normally during cell division (meiosis).

A

Nondisjunction

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9
Q

This is an aneuploidy with the presence of an extra chromosome.

A

Trisomy

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10
Q

This is an aneuploidy with the absence of a single chromosome.

A

Monosomy

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11
Q

This is the number of abnormal cells if nondisjunction happens at meiosis 1.

A

2

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12
Q

This is the number of abnormal cells if nondisjunction happens at meiosis 2.

A

1

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13
Q

This abnormality is when chromosomes are at a higher number than 46 but is always an exact multiple of haploid chromosomes (23).

A

Polyploidy

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14
Q

This polyploidy has a karyotype of 69 chromosomes.

A

Triploidy (3n)

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15
Q

This polyploidy has a karyotype of 92 chromosomes.

A

Tetraploidy (4n)

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16
Q

This abnormality is associated with nondisjunction and genome duplication.

A

Autoploidy

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17
Q

This is the two types observed by nondisjunction.

A

Meiotic and mitotic.

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18
Q

These are the diseases associated with chromosomal aberrations.

A

Infertility, intersexes, multiple congenital malformations, and mental retardation.

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19
Q

These are numerical abnormalities that has fewer than 46 chromosomes.

A

Hypodiploid

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20
Q

These are numerical abnormalities that has 23-34 chromosomes.

A

Near-haploid

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21
Q

These are numerical abnormalities that has more than 46 chromosomes.

A

Hyperdiploidy

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22
Q

These are numerical abnormalities that has more than 50 chromosomes.

A

High Hyperdiploidy

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23
Q

These are the two types of aneuploidy.

A

Sex chromosome and autosomal aneuploidies.

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24
Q

These are examples of sex chromosome aneuploidies occurring in females.

A

Turner Syndrome (XO) and Metafemale (XXX).

25
Q

These are examples of sex chromosome aneuploidies occurring in males.

A

Kleinfelter Syndrome (XXY) and Jacob’s Syndrome (XYY).

26
Q

These are examples of sex chromosome aberrations with monosomy nondisjunction.

A

Turner Syndrome (XO)

27
Q

These are examples of sex chromosome aberrations with trisomy nondisjunction.

A

Metafemale, Kleinfelter, and Jacob’s Syndrome.

28
Q

This numerical aberration was discovered by Dr. Henry Turner in the 1938.

A

Turner’s Syndrome (XO)

29
Q

This is the statistics of a turner syndrome happening within females.

A

1 out of 2,500

30
Q

These are the other terms used for the Turner Syndrome (XO).

A

Gonadal Dysgenesis Monosomy X and Ulrich-Turner Syndrome.

31
Q

This disease is characterized by lymphedema of hands and feet, rudimentary ovaries, and webbed neck.

A

Turner Syndrome (XO)

32
Q

This disease features women that are short in stature, shortened metacarpal IV, small fingernails, and distinct facial features.

A

Turner Syndrome (XO)

33
Q

This numerical aberration has the presence of an extra X chromosome in each cell of a female whilst having no distinguishable difference between regular females.

A

Metafemale (Triple X)

34
Q

This disease features menstrual irregularities, increased risk of learning disabilities, delayed speech, language deficiency, and delayed motor skills.

A

Metafemale (Triple X)

35
Q

These are other terms for the Metafemale (Triple X).

A

Trisomy X and 47 XXX Aneuploidy.

36
Q

This numerical aberration is a condition in which males have an extra X chromosome and generates an imbalanced testosterone level.

A

Kleinfelter’s Syndrome (XXY)

37
Q

This disease features weak bones, low energy, low testosterone, small penis and testicles, delayed puberty, less hair, incomplete masculinization, decreased libido, gynecomastia, and body pattern abnormalities.

A

Kleinfelter’s Syndrome (XXY)

38
Q

These are other terms for the Kleinfelter’s Syndrome (XXY)

A

47 XXY or XXY Syndrome

39
Q

This numerical aberration is described to have a normal phenotype with tall stature.

A

Jacob’s Syndrome (XYY)

40
Q

This disease features increased ADHD (attention deficit hyperactivity disorder) and autistic spectrum vulnerability, learning disabilities, eyes set slight apart, large head, and infertile.

A

Jacob’s Syndrome (XXY)

41
Q

This is an autosomal aberration caused by the presence of all or part of an extra 21 chromosome.

A

Down Syndrome

42
Q

This is the person who discovered Down Syndrome and the year it was discovered.

A

John Langdon Down in 1866.

43
Q

This is the statistics of Down Syndrome within people.

A

1 out of 750

44
Q

This autosomal aberration features microgenia (abnormally small chin), unusually round face, macroglossia (oversized tongue), almond shape eyes via epicanthic eyelid fold, short limbs, poor muscle tone, and large space between big and second toe.

A

Down Syndrome

45
Q

These are other terms for the Down Syndrome.

A

Trisomy 21, Trisomy G, and Mongolism

46
Q

This autosomal aberration is described to have an extra 18th chromosome with its incidence increasing as a mother age, and very low survival rate due to heart, kidney, and internal organ disorders.

A

Edwards’s Syndrome

47
Q

This autosomal aberration is more common in females and is called as “rocker bottom feet.”

A

Edwards’s Syndrome

48
Q

This is the statistics on
Edwards’s Syndrome within the population.

A

1 in 8,000 births above 4 months old.

49
Q

This disease features a low birth weight, small and abnormal shaped head, small jaw and mouth, long fingers that overlap, underdeveloped fingers and clenched fists, low-set ears, smooth feet with round soles, and cleft lip and palate.

A

Edwards’s Syndrome

50
Q

These are other names for the Edwards’s Syndrome.

A

Trisomy 18 and Trisomy E

51
Q

This autosomal aberration is described to have an extra copy of chromosome 13 that causes numerous physical and mental abnormalities, especially heart defects.

A

Patau Syndrome (Trisomy 13)

52
Q

This is the statistics in the Patau Syndrome that affects the population.

A

1 in 19,000 births above 3 months old

53
Q

This disease features a small head size, extra toes or fingers, cleft lip and palate, heart defects, holoprosencephaly, nasal malformation, and hypotelorism (cyclops) .

A

Patau Syndrome (Trisomy 13)

54
Q

This is an associative disease that prevents the brain in dividing into 2 halves, causing severe mental retardation.

A

Holoprosencephaly

55
Q

This is an associative disease that reduces the distance between the eyes.

A

Hypotelorism

56
Q

This autosomal aberration is described to have an extra copy of the 8th chromosome.

A

Warkany Syndrome (Trisomy 8)

57
Q

This disease features deformed facial structures like scaphocephaly, prominent forehead, wide-spaced eyes, deep et eyes, broad upturned nose, additionally it features brain malformation, cleft palate, short neck with extra folds, long slim body with narrow chest, shoulder, and pelvis, and kidney and heart abnormalities.

A

Warkany Syndrome (Trisomy 8)

58
Q

This is the person that discovered the Turner Syndrome and the year it was discovered.

A

Dr. Henry Turner in 1938

Cytogenetics (15 decks)

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