A+P: What is Medical Genetics? Flashcards

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1
Q

What is medical genetics?

A

The application of genetics to medical practice through the use of clinical geneticists, nurses & genetic counselors.

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2
Q

Medical genetics includes what services?

A

clinical services & laboratory testing.

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3
Q

List the Areas of Medical Genetics

A
  • Prenatal
  • Pediatric
  • Adult
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4
Q

Who needs prenatal medical genetics?

A

Women concerned about a genetic problem or birth defect for their baby

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5
Q

Who needs pediatric medical genetics?

A

Children w/
- developmental delays
- dysmorphic facial features
- birth defect(s)
- sick often or not growing well

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6
Q

Who needs adult medical genetics?

A

ppl w/ a personal &/or FHx of
- CA
- psych conditions
- neuromuscular dz
- hemochromatosis
- blood clots
- CV problems

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7
Q

Prenatal Setting: Women are seen who have…

A
  • an incr risk to have a baby w/ a chromosome abnormality or genetic condition
  • an abnl prenatal screening test
  • an abnl US finding
  • a FHx of birth defect &/or genetic condition
  • had a prenatal exposure
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8
Q

What is an US abnormality that can be seen on US?

A

cleft lip

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9
Q

Examples of prenatal exposures

A
  • Fetal alcohol syndrome
  • Fetal fentanyl exposure
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10
Q

Pediatric Setting: Children are seen who have…

A
  • trouble growing &/or w/ their development
  • intellectual disabilities, behavioral problems &/or learning problems
  • a suspected or dx genetic condition
  • birth defect(s)
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11
Q

What is an example of a condition that can be detected in the pediatric setting?

A

spina bifida

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11
Q

Adult Setting Cancer looks at

A
  • breast/ovarian cancer
  • colon cancer
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12
Q

Adult Setting neuromuscular looks at

A
  • Huntington dz
  • Parkinson dz
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12
Q

The adult setting of medical genetics includes what 4 areas?

A
  • CA
  • Neuromuscular
  • CV
  • Psych
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13
Q

Adult Setting CV looks at

A
  • CAD
  • Cardiomyopathy
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13
Q

Adult Setting Psychiatry looks at

A
  • Schizophrenia
  • Manic depression
14
Q

Huntington Dz:
What is it?
Sx who at what age?
Death after onset?

A
  • Degenerative brain disorder
  • Sx usually b/t 30 & 50
  • Death 15-20yrs after onset
14
Q

Examples of genetic RFs

A
  • Factor V Leiden mutation
  • Prothrombin 20210A mutation
  • PRO S deficiency
  • PRO C deficiency
  • Antithrombin III deficiency
  • Dysfibrinogenemia
15
Q

What symptoms are seen w/ Huntington’s Disease?

A
  • Sx are both behavioral/emotional as well as physical
  • involuntary movements, drunken gait
  • depression, irritability, aggressive outbursts, social withdrawal, short term memory loss
15
Q

Examples of environmental RFs

A
  • Surg/Trauma
  • CA
  • DM
  • Obesity
  • Prolonged bedrest
  • Pregnancy
  • Estrogen therapy
  • Oral contraceptive use
  • HTN
  • Smoking
  • High Cholesterol
16
Q

What are top 5 leading causes of death in the US?

A
  1. Heart dz: 702,880
  2. CA: 608,371
  3. Accidents (unintentional injuries): 227,039
  4. COVID-19: 186,552
  5. Stroke (cerebrovascular dz): 165,393
17
Q

Types of genetic d/o

A
  • chromosomal
  • single-gene
  • multifactorial
  • mitochondrial
  • environmental
  • sporadic
  • idiopathic
18
Q

Describe chromosome d/o

A

disorders due to numerical or structural abnormalities.

19
Q

Describe environmental d/o

A
  • Infectious agents
  • Meds & drugs
19
Q

Describe single-gene d/o

A

which single genes are altered;
also called mendelian conditions.

20
Q

Describe mitochondrial d/o

A

rare dz caused by alterations in the mitochondrial DNA.

21
Q

Describe multifactorial d/o

A

result from a comb of genetic & environmental causes.

21
Q

Describe idiopathic d/o

A

Unknown-still the largest category

22
Q

Describe sporadic d/o

A

Isolated recognizable entities: Some sporadic events have now been chromosomally ID’d