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Biochemistry > Genetic Disease Clinical Approaches > Flashcards

Genetic Disease Clinical Approaches Flashcards

1
Q

Genetic Counseling Definition

A

Process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease

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2
Q

6 Components of Genetic Counseling

A 
Family/Medicical History Review (very thorough)
Education
Introduction of Management Options
Targeted/Physical Exam
Genetic Testing w/ Informed Consent
Results Disclosure
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3
Q

Most Important Tool for Geneticists

A

Family History

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4
Q

5 Indications for Prenatal Screening/Testing

A 
Advanced maternal age
US abnormalities
Family history of genetic disease
Teratogenic exposures
Maternal conditions
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5
Q

Central Tenant of Genetic Counseling

A

Non-Directiveness

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6
Q

GINA Protections (2)

A

Protects against health insurers/employers using predictive genetic information for policies/employment or requesting genetic testing for policy/employment

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7
Q

4 Things GINA Doesn’t Protect Against

A

Diagnostic test results or results in those manifesting disease
Disability/life/long-term care insurance discrimination
Apply to members of the military getting VA based healthcare
Employees of businesses w/ fewer than 15 employees (in theory)

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8
Q

9 Physical Landmarks of Face

A 
Nasal bridge
Pinna
Tragus
Nares
Angle of Jaw
Inner canthus
Outer canthus
Ala
Philtrum
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9
Q

Dysmorphology

A

Discipline in human genetics to recognize physical anomalies of human morphology

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10
Q

5 Targeted Questions for Medical History

A 
Multiple miscarriages
Early deaths
Early-onset cancer
Intellectual disability
Psychiatric disorders
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11
Q

5 Basic Elements of Pregnancy Genetic Medical History

A 
Parental ages
Maternal disease
Teratogenic Exposures
Fetal development
Prenatal testing
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12
Q

3 Basic Elements of Perinatal Genetic Medical History

A

Gestational age
Delivery complications
Birth weight/length/head circumference

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13
Q

3 Basic Elements of Neonatal Genetic Medical History

A

Complications
Length of Newborn stay
Newborn screening

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14
Q

Major vs. Minor Malformations

A

Majors create significant medical problems that require a specific surgical or medical management, while minors don’t cause increased morbidity

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15
Q

Percentage of General Population w/ >0 Anomalies

A

30%

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16
Q

Disease that Becomes More Noticeable w/ Age

A

Mucopolysaccharidoses (MPS)

17
Q

2 Diseases that Become Less Noticeable w/ Age

A

Noonan

Beckwith Wiedemann Syndrome (BWS)

18
Q

Hypertelorism

A

Increased intercaranthal distance (larger than eye), w/ normal pupils

19
Q

Telecanthus

A

Increased intercaranthal distance w/ decreased interpupillary distance

20
Q

Smooth philtrum/small upper lip symptom of

A

FAS

21
Q

5 Behavioral Abnormalities

A 
Autism
Hyperphagia (eating too much)
Sleep disturbance
Hypersociable personality
Self-mutilation
22
Q

2 Definitions of Multiple Congenital Anomalies (MCA)

A

2+ major malformations or 3+ minor malformations

23
Q

4 MCAs from Numerical Autosomal Chromosome Abnormalities

A 
Trisomy 21 (Down Syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau Syndrome)
24
Q

Clinical Features of T21 (9)

A 
Dysmorphic facial features
Cardiac defects
GI defects
Eye anomalies
ID
Leukemia
Hearing Loss
Alzheimer's
Hypothyroidism
25
Q

Genetic Causes of DS (3.2)

A

95% from free T21 - 90% during oogenesis (usually Mei I) and 5% from spermatogenesis
4% Robertsonian
1% mosaic

26
Q

Difference b/w Nondisjuction in Mei I and II

A

I: Homologous chromosomes fail to separate, have 2 chroms w/ different info
II: Sister ctids fail to separate, have 2 chroms w/ same info

27
Q

3 Nonviable Robertsonian Inheritances

A

Monosomy 21
Trisomy 14
Monosomy 14

28
Q

3 Viable Robertsonian Inheritances

A

Normal
Balanced Robertsonian
T21

29
Q

Odds of Robertsonian Mother Having baby w/ DS

A

Should be 1/3, but most miscarried so more like 10-15%

30
Q

5 Tests for T21 Patients

A 
Complete blood count at diagnosis
EKG at diagnosis
Thyroid at 6/12 months then annually
Annual ophthalmologic
Annual audiologic
31
Q

4 Common Symptoms of Edwards Syndrome (T18)

A

SGA
Clenched hands
Prominent occiput
Rocker-bottom feet

32
Q

2 Genetic Features of T18

A

Usually nondisjunction in Mei II

80% females

33
Q

Turner Syndrome 2 Genetic Features

A

Monosomy X

70% due to error in paternal gametogenesis, so remaining X is maternal

34
Q

Cri-du-Chat Genetic features (cause and source)

A

5p15.2 deletion

De novo deletions usually

35
Q

Williams Syndrome (cause and 3 features)

A

7q11.23 deletion

Puffy eyes, “cocktail party personality,” strong attraction to music

36
Q

DiGeorge Syndrome (cause and source)

A 
22q11 deletion
Autosomal dominant (10% of parents have it!)
37
Q

Rubinstein-Taybi Syndrome (cause and 2 symptoms)

A

Microdeletions of various genes, causes broad thumbs/big toe and distinct facial features

Biochemistry (23 decks)

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