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Genetics > Lecture 2 > Flashcards

Lecture 2 Flashcards

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1
Q

What is the term for too many or too few chromosomes?

A

aneuploidy

most common

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2
Q

What are the 3 trisomy compatible with life?

A

Trisome 21, 18, 13

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3
Q

What is the main risk factor associated with Trisomy 21?

A

increased maternal age >30 years

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4
Q

What is the most common genetic cause of mental retardation?

A

Trisomy 21

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5
Q

33% of patients with Trisomy 21 also have associated disease of this organ.

A

congenital heart disease

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6
Q

Trisome 21 are at an 15-fold increased risk of what cancer?

A

leukemia

and premature dementia

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7
Q

95% of down syndrome chromosome abnormalities is caused by what?

A

Trisomy 21

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8
Q

The majority of trisomy 21 is caused by what type of disjunction?

A

non-disjunction in maternal meiosis 1

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9
Q

What are the 5 acrocentric chromosomes?

A

13, 14, 15, 21, 22

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10
Q

What is Robertsonian translocation?

A

translocation of 2 acrocentric chromosomes

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11
Q

Mosaicism occurs in _____

A

mitosis

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12
Q

Down syndrome is primarily diagnosed when?

A

prenatally

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13
Q

What are the 3 prenatal screening tests for Down syndrome?

A
  • non-invasive prenatal testing (NIPT)
  • first trimester risk assessment (FTRA)
  • quad/penta screening
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14
Q

What are the 3 components of the first trimester risk assessment (FTRA)?

A
  • HCG
  • plasma protein type A
  • ultrasound
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15
Q

What are the 5 components of the quad/penta screening?

A
  • AFP
  • B-HCG
  • inhibin-A
  • Estriol
  • h-HCG
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16
Q

If any of the prenatal screening tests for Down come back positive what diagnostic tests could you perform next?

A
  • Amniocentesis

- Chorionic Villus Sampling (CVS)

17
Q

Which of the Down prenatal diagnostic tests can be done between 15-20 weeks?

A

amniocentesis

18
Q

Which of the Down prenatal diagnostic tests can be done between 10-12 weeks?

A

Chorionic Villus Sampling (CVS)

19
Q

Which of the trisomies results in HYPERtonia?

A

Trisomy 18

20
Q

What is the cause of velocardiofacial syndrome?

A

small deletion of chromosome 22 Q arm at position 11.2

21
Q

Why does Turner Syndrome result in a less severe phenotype?

A
  • because only one X chromosome is active in any given cell anyway
22
Q

A short, webbed neck, short stature and amenorrhea is consistent with this aneuploidy.

A

Turner Syndrome

23
Q

What are the heart defects associated with Turner Syndrome? (3)

A
  • aortic valve stenosis
  • coarctation of the aorta
  • bicuspid aortic valve
24
Q

Klinefelter syndrome primarily affects what gender?

A

males

more Xs the worse the phenotype

25
Q

Infertility, small testes, and gynecomastia is consistent with this aneuploidy.

A

Klinefelter syndrome

26
Q

What is the cause of sex reversal disorders?

A

abnormal allosome crossing over occuring at the SRY gene

27
Q

Single gene disorders is especially important in what population?

A

pediatrics

28
Q

If you express the gene when the individual is heterozygous for the allele this means it is a ________ gene.

A

dominant

29
Q

ABO blood group is what time of dominance?

A

co-dominant

30
Q

If an individual has to be homozygous to express an allele this means it is a ________ gene.

A

recessive

31
Q

What distinguishes X-linked disorders?

A

lack of male-male transmission

32
Q

In X-linked _______ diseases, carrier females (heterozygous) consistently have a disease phenotype.

A

dominant

X-linked recessive do not express the disorder phenotype

33
Q

This is the probability that a gene will have any phenotypic expression.

A

penetrance

34
Q

This is the severity of expression of a phenotype among individuals with a given genotype.

A

expressivity

Genetics (4 decks)

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