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M2P Test 2 > Chromosomal abnormalities > Flashcards

Chromosomal abnormalities Flashcards

(20 cards)

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1
Q

What are 3 chromosomal abnormalities?

A
  1. Numberical Abnormalities
  2. Structural Abnormalities
  3. Chromosomal Instability
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2
Q

What are 5 types of Structural Abnormalities?

A
  1. Deletions and Microdeletions
  2. Duplications
  3. Translocations
  4. Inversions
  5. Fragile Sites
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3
Q

Down Syndrome

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Nondisjunction

Extra chromosome 21

Mental Retardation
Craniofacial Defects : Brachycephaly, up-slanting palpebral fissures
Cardiac Defects

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4
Q

Edward Syndrome

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Nondisjunction

Extra Chromosome 18

Mental Retardation
Craniofacail defects: low set ears, micrognathia
Cardiac Defects

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5
Q

Patau Syndrome?

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Nondisjunction

Extra Chromosome 13

Mental Retardation ; holoprosencephaly
Craniaofacial: Cleft-lip and palate, eye defects
Cardiac Symptoms
Deafness

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6
Q

Warkany Syndrome?

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Non-disjunctions

extra chromosome 8

Prominent forehead; cleft palate ; micrognathia

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7
Q

Klinefelter’s Syndrome ?

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Nondisjunction

Extra chromosome X (47, XXY)

Male presence of barr bodies (inactive X chromosome)
Sterile, testicular atrophy, gynocomastia

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8
Q

Triple X Syndrome?

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Non disjunction

Extra X chromosome (47 , XXX)

Two barr bodies
Amenorrheic –> Absensce of menstrual period
No classic pattern of malformation

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9
Q

Turner’s Syndrome?

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Non disjunction

Just one X chromosome (45, X-)

Short Stature ; broad chest ; short neck
Streak gonads (gonadal disgenesis)
Lack of secondary sex characteristics at puberty
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10
Q

Cri duchat Syndrome

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Deletion

short arm of chromosome 5

Cat cry due to messed up larynx
Microcephaly

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11
Q

Deletion 4q Syndrome

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Deletion

Deletion of long arm of chromosome 4

mental retardation
cleft palate
Limb abnormalities

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12
Q

Angelman Syndrome?

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Microdeletion –> mother’s chromosome

microdeletion of chromosome 15

puppet-like gait
Absent speech
uncontrolled laughter

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13
Q

Prader-Will Syndrome

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Microdeletion —> paternal chromosome

microdeletion of long arm of chromosome 15

obesity hypotonia
hypogonadism

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14
Q

Charcot- Marie- Tooth?

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Duplication

Duplication on chromosome 17

PMP22 (gene affected) is responsible for creating myelin ; in this case it makes too much and this leads to motor and sensory deficits

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15
Q

Chronic Myelogenous Leukemia

  • > Mechanism
  • > Chromosome affected
  • > symptoms
A

Tranlocation

Translocation between chromosome 9 and 22 (occurs during mitosis)

Results in cancer of WBC

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16
Q

Robertsonian Trisomy 21

  • > Mechanism
  • > Chromosome affected
  • > symptoms
Study These Flashcards
A

Translocation

Translocation between 14 and 21

17
Q

Fragile X syndrome?

  • > Mechanism
  • > Chromosome affected
  • > symptoms
Study These Flashcards
A

mutation in fragile site

X-chromosome ; gene FMR1

Mental retardation exacerbated in males
Large ears, prominent jaw, large testes in males

18
Q

Huntington Syndrome

  • > Mechanism
  • > Chromosome affected
  • > symptoms
Study These Flashcards
A

Mutation in fragile site

HTT gene

Build up of protein accumulates in brain cells
Neurodegenerative ; starts in mid 30’s

19
Q

Ataxia Telangiectasia

  • > Mechanism
  • > Chromosome affected
  • > symptoms
Study These Flashcards
A

mutation in genes that are in charge of ensuring DNA stays safe

ATM gene

Ataxia ; neurodegeneration ; immunodefficieny
premature aging

20
Q

Nijmengan Breakage Syndrome

  • > Mechanism
  • > Chromosome affected
  • > symptoms
Study These Flashcards
A

mutation in genes that are in charge of ensuring DNA stays safe

NBN gene (8q21)

Microcephaly, mental retardation, immunedefficieny, cancer

M2P Test 2 (4 decks)

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