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Pathology 2420 Part 1 > Genetics > Flashcards

Genetics Flashcards

1
Q

What is a Genotype?

A

the genetic makeup of a person

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2
Q

What is a Phenotype?

A

the physical manifestation of an inherited trait or disease

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3
Q

When do you consider a referral to genetics? (6)

A
  • developmental delay
  • dysmorphic features
  • congenital malformations
  • a positive family history of a genetic disorder
  • recurrent miscarriages/still births
  • consanguinity
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4
Q

What are some disorders that become more common due to founder effect/consanguinity? (6)

A
  • Ashkenazi Jewish: Tay-Sachs, BRCAI
  • Mediterranean: beta-thalassemia
  • Southeast Asian: alpha-thalassemia
  • Amish/Mennonite and Arab: various rare disorders
  • African: sickle cell anemia
  • Caucasian: cystic fibrosis
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5
Q

What are G/Giemsas?

A

Banded Chromosomes

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6
Q

What are the largest chromosome pairs?

A

Number 1

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7
Q

What are the smallest chromosome pairs?

A

Number 2

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8
Q

Which chromosomes determine sex?

A

Chromosome 23

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9
Q

What are the different Chromosomal Disorders?

A
  • Numerical Chromosome Anomaly
  • Structural Anomaly
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10
Q

What is Numerical Chromosome Anomaly?

A

Error which occurs in Meiosis (1 or 2), resulting in aneuploidy (monopsony or trisomy) or triploidy

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11
Q

What is Structural Anomaly?

A

Error of recombination

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12
Q

What is the most common cause of Trisomy 21?

A

Nondisjunction

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13
Q

What is Trisomy 21?

A

When a person has an extra chromosome 21
Results in Down syndrome

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14
Q

What are the characteristics of Down Syndrome?

A
  • distinct facial features
  • developmental delay
  • heart defects
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15
Q

In which population is Trisomy 21 most common? (3)

A
  • Mothers of advanced maternal age
  • due to cell division completing in mothers after ovulation and further after fertilization
  • with time, those chromosomes become very sticky as the age of the egg advances
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16
Q

What are the different ways Trisomy 21 can occur? (3)

A
  • nondisjunction
  • Translocation
  • Mosaic
17
Q

What are Structural Chromosome Anomalies? (3)

A
  • Caused by error of recombination
  • May be balanced - translocation (reciprocal or robertsonian) or inversion
  • may be unbalanced - deletion, duplication, translocation, inversion
18
Q

What are the different Chromosome Disorders? (4)

A
  • Trisomy 13
  • Trisomy 18
  • Turner Syndrome (45x)
  • Klinefelter Syndrome 47, XXY
19
Q

What is Trisomy 13? (5)

A
  • also known as Palau Syndrome
  • Midline defects are common
  • extra fingers
  • 80-90% die in first year
  • Severe developmental delay
20
Q

What is Trisomy 18? (5)

A
  • also known as Edward Syndrome
  • Most are female (5:1)
  • Frequent cardiac defects
  • 80-90% die in first year of life
  • Marked developmental delay
21
Q

What is Turner Syndrome? (7)

A
  • disorder in which there is only one X chromosome
  • puffy hands and feet at birth
  • webbed neck
  • coarctation of aorta
  • short stature
  • primary amenorrhea and infertility (streak ovaries)
  • Normal intelligence
22
Q

What is Klinefelter Syndrome? (7)

A
  • disorder in which there is an extra X chromosome XXY
  • Tall stature
  • Excess breast development
  • small testes
  • infertility
  • normal appearance
  • may have learning disabilities
23
Q

Who is the father of Genetics?

A

George Mendel

24
Q

What did George Mendel do?

A

He worked with seven characteristics of pea plants, and crossed them to see what he could get, looking at the genetics

25
Q

What is Autosomal Dominant? (5)

A
  • Diseases/disorders that run in families
  • usually present in every generation
  • not tied to a X chromosome
  • Males and females are affected equally
  • about 50% transmission
26
Q

What is an example of an Autosomal Dominant Disease?

A

Polycystic Kidney disease

27
Q

What is Autosomal Recessive? (4)

A
  • diseases/disorders in which the person inherits two changed genes
  • majority of people are carriers, but it does not affect their health
  • Males and females are effected equally
  • Consanguinity increase the number of individuals affected
28
Q

What is an example of Autosomal Recessive Disease?

A

Cystic Fibrosis

29
Q

What is Cystic Fibrosis? (3)

A
  • When we have mutations or changes in the gene CFTR
  • It codes for the CFTR protein which is responsible for chloride channels
  • it starts to affect the mucus and motility of the cilia
30
Q

What are the characteristics of an X-linked Inheritance? (4)

A
  • Males affected almost exclusively
  • the gene alteration can be transmitted from female carriers to sons, but the females are often asymptomatic
  • affected males cannot transmit the condition to their sons
  • carrier females may be mildly affected or fully affected due to skewed X inactivation
31
Q

Why are males affected by X-linked disorders?

A
  • only 1 X chromosome
  • must express all x-linked genes
  • hemizygous
32
Q

What is Duchenne Muscular Dystrophy? (5)

A
  • X-linked disorder that impacts the gene called DMG
  • this gene codes for dystrophin, which is important in the muscles
  • affected males die in their early 20s due to cardiomyopathy
  • mutation may be inherited from mother or new mutation
  • high spontaneous mutation rate
33
Q

What occurs in boys who have Duchenne Muscular Dystrophy?

A
  • They will present early on with progressive breakdown of muscles
  • One of the signs is hypertrophy, fatty tissue as opposed to muscle
  • progressive muscle weakness
34
Q

What are the characteristics of Mitochondrial DNA Disorders? (4)

A
  • all mitochondria are inherited from the mother through the egg
  • mitochondria have their own circular DNA
  • expectation is to have maternal inheritance, and all her offspring will have it/carry it
  • severity depends on the abnormality of the mitochondria genetic material
35
Q

What are the Symptoms of Mitochondrial Multi-systemic Disorders? (6)

A
  • Muscle = fatigue and low tone
  • Brain = cognitive dysfunction
  • Digestive = feeding difficulties, constipation
  • Cardiac = cardiomyopathy
  • Eye = limited eye movement
  • Diabetes

Pathology 2420 Part 1 (6 decks)

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