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Cytogenetics > Numerical Abberations > Flashcards

Numerical Abberations Flashcards

1
Q

2 Major Categories of Chromosomal Abnormalities

A
  • Numerical Abnormalities
  • Structural Abnormalities
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2
Q

Defects involving an abnormality in the number of chromosomes

A

Numerical Abnormalities

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3
Q

Subclassifications of Numerical Abnormalities

A

ANEUPLOIDY
POLYPLOIDY

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4
Q

Condition of having a normal number of structurally normal
chromosomes

A

Euploidy

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5
Q

Any abnormal number of chromosomes that is not a multiple of the haploid number

A

Aneuploidy

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6
Q

Presence of an extra chromosome

A

Trisomy

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7
Q

Absence of a single chromosome

A

Monosomy

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8
Q

Cause of Aneuploidy

A

Non disjunction - Failure of chromosomes to separate normally

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9
Q

Chromosome number is higher than 46 but is
always an exact multiple of the haploid

A

Polyploidy

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10
Q

A karyotype with 69 chromosomes

A

Triploidy (3n)

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11
Q

A karyotype with 92
chromosomes

A

Tetraploidy (4n)

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12
Q

2 ways of Autopolyploidy

A
  • Nondisjunction
  • Meiotic nondisjunction
  • Mitotic nondisjunction (occur in early embryo)
  • Genome duplication
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13
Q

Cell with fewer than 46 chromosomes

A

Hypodiploid

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14
Q

Cells have from 23 up to approximately 34 chromosomes

A

Near-haploid

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15
Q

Cells have more than 46 chromosomes

A

Hyperdiploid

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16
Q

Chromosome number of more than 50

A

High hyperdiploidy

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17
Q

Disease Associations

A

Infertility and sterility
Intersexes
Multiple congenital malformations
Mental retardation

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18
Q

Types of Aneuploidy

A

Sex Chromosome Aneuploidies Autosomal Aneuploidies

19
Q

Females

A

Turner syndrome (XO)
Metafemale (Triple- X)

20
Q

Males

A

Klinefelter syndrome (XXY)
Jacob syndrome (XYY)

21
Q

Which sex chromosomal aberrations are monosomy?

A

Turner Syndrome?

22
Q

Turner syndrome is first described in year __?

A

1938

23
Q

Turner syndrome is first described by ___?

A

Dr. Henry Turner

24
Q

Turner syndrome occurs in ____

A

1 out of every 8,000 girls

25
Q

Presence of an extra X chromosome in each cell of a human female

A

Triple-X, trisomy X, XXX syndrome, and 47,XXX
aneuploidy

26
Q

47, XXY or XXY syndrome

A

Klinefelter’s Syndrome

27
Q

Cite features of Triple X Syndrome

A
  • Menstrual irregularities
  • Learning Disabilities
28
Q

Cite features of Turner Syndrome

A
  • Short stature
  • Lymphedema (swelling) of the hands and feet
  • Rudimentary ovaries gonadal streak (underdeveloped gonadal structures)
  • Shortened metacarpal IV (of hand)
  • Small fingernails
  • Characteristic facial features
  • Webbed neck
29
Q

47, XXY or XXY syndrome

A

Klinefelter’s Syndrome

30
Q

Cite features of Klinefelter’s Syndrome

A

Gynecomastia
Weaker bones
Low energy levels
Smaller testicles & penis
Delayed puberty
Less facial & body hair

31
Q

47, XYY syndrome

A

Jacob’s Syndrome

32
Q

Cite features of Jacob’s Syndrome

A
  • Normal appearance -> tall stature
  • Increased vulnerability to ADHD
    (attention deficit hyperactivity disorder)
  • Learning disabilities
  • Increased vulnerability to autistic spectrum disorders
  • Eyes set slightly far apart
  • Large head
  • Infertility
33
Q

Autosomal Numeric Aberration

A
  • Down Syndrome
  • Edward Syndrome
  • Patau Syndrome
  • Warkany Syndrome
34
Q

Trisomy 21, Trisomy G

A

Down Syndrome

35
Q

Down Syndrome is named after Doctor ___?

A

John Langdon Down

36
Q

Down Syndrome is named in the year ___?

A

1866

37
Q

Cite features of Down Syndrome

A
  • Microgenia (an abnormally small chin)
  • Unusually round face
  • Macroglossia (protruding or oversized tongue)
  • Almond shape to the eyes caused by an epicanthic
    fold of the eyelid
  • Shorter limbs
  • Poor muscle tone
  • Larger than normal space between the big and
    second toes
38
Q

Trisomy 18 / Trisomy E is known as?

A

Edwards Syndrome

39
Q

Trisomy 18 / Trisomy E results from?

A

heart abnormalities,
kidney malformations, and other internal organ disorders

40
Q

Cite features of Edwards Syndrome

A

Low birthweight
* Small, Abnormal shaped head
* Small jaw and mouth
* Long fingers that overlap, with
underdeveloped thumbs and clenched fists
* Low-set ears
* Smooth feet with rounded soles
* Cleft lip and palate

41
Q

Trisomy 13 is also known as?

A

Patau Syndrome

42
Q

Cite features of Patau Syndrome

A
  • Small head size
  • Extra toes or fingers
  • Cleft lip or palate
  • Heart defects
  • Holoprosencephaly à the brain doesn’t divide
    into two halves; Severe mental retardation
  • Nasal malformation
  • Hypotelorism (reduced distance between the
    eyes) or cyclops
43
Q

Trisomy 8 is also known as

A

Warkany Syndrome

44
Q

Cite features of Patau Syndrome

A
  • Characteristic facial features:
  • Elongation of the skull (scaphocephaly)
  • Prominent forehead
  • Widely-spaced eyes
  • Deeply set eyes
  • Broad upturned nose
  • Brain malformations
  • Highly arched or cleft palate
  • Shortened neck with extra skin folds
  • Long slim body with a narrow chest, shoulders, and pelvis
  • Kidney and cardiac abnormalities

Cytogenetics (2 decks)

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