Genetic Disease Clinical Approaches Flashcards Preview

Biochemistry > Genetic Disease Clinical Approaches > Flashcards

Flashcards in Genetic Disease Clinical Approaches Deck (37)
1

Genetic Counseling Definition

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

2

6 Components of Genetic Counseling

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

3

Most Important Tool for Geneticists

Family History

4

5 Indications for Prenatal Screening/Testing

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

5

Central Tenant of Genetic Counseling

Non-Directiveness

6

GINA Protections (2)

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

7

4 Things GINA Doesn't Protect Against

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)

8

9 Physical Landmarks of Face

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

9

Dysmorphology

Discipline in human genetics to recognize physical anomalies of human morphology

10

5 Targeted Questions for Medical History

Multiple miscarriages
Early deaths
Early-onset cancer
Intellectual disability
Psychiatric disorders

11

5 Basic Elements of Pregnancy Genetic Medical History

Parental ages
Maternal disease
Teratogenic Exposures
Fetal development
Prenatal testing

12

3 Basic Elements of Perinatal Genetic Medical History

Gestational age
Delivery complications
Birth weight/length/head circumference

13

3 Basic Elements of Neonatal Genetic Medical History

Complications
Length of Newborn stay
Newborn screening

14

Major vs. Minor Malformations

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

15

Percentage of General Population w/ >0 Anomalies

30%

16

Disease that Becomes More Noticeable w/ Age

Mucopolysaccharidoses (MPS)

17

2 Diseases that Become Less Noticeable w/ Age

Noonan
Beckwith Wiedemann Syndrome (BWS)

18

Hypertelorism

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

19

Telecanthus

Increased intercaranthal distance w/ decreased interpupillary distance

20

Smooth philtrum/small upper lip symptom of

FAS

21

5 Behavioral Abnormalities

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

22

2 Definitions of Multiple Congenital Anomalies (MCA)

2+ major malformations or 3+ minor malformations

23

4 MCAs from Numerical Autosomal Chromosome Abnormalities

Trisomy 21 (Down Syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau Syndrome)

24

Clinical Features of T21 (9)

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

25

Genetic Causes of DS (3.2)

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

26

Difference b/w Nondisjuction in Mei I and II

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

3 Nonviable Robertsonian Inheritances

Monosomy 21
Trisomy 14
Monosomy 14

28

3 Viable Robertsonian Inheritances

Normal
Balanced Robertsonian
T21

29

Odds of Robertsonian Mother Having baby w/ DS

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

30

5 Tests for T21 Patients

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

31

4 Common Symptoms of Edwards Syndrome (T18)

SGA
Clenched hands
Prominent occiput
Rocker-bottom feet

32

2 Genetic Features of T18

Usually nondisjunction in Mei II
80% females

33

Turner Syndrome 2 Genetic Features

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

34

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

5p15.2 deletion
De novo deletions usually

35

Williams Syndrome (cause and 3 features)

7q11.23 deletion
Puffy eyes, "cocktail party personality," strong attraction to music

36

DiGeorge Syndrome (cause and source)

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

37

Rubinstein-Taybi Syndrome (cause and 2 symptoms)

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