Genetic Disease Clinical Approaches

Question 1

Genetic Counseling Definition

Answer 1

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

Question 2

6 Components of Genetic Counseling

Answer 2

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

Question 3

Most Important Tool for Geneticists

Answer 3

Family History

Question 4

5 Indications for Prenatal Screening/Testing

Answer 4

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

Question 5

Central Tenant of Genetic Counseling

Answer 5

Non-Directiveness

Question 6

GINA Protections (2)

Answer 6

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

Question 7

4 Things GINA Doesn’t Protect Against

Answer 7

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)

Question 8

9 Physical Landmarks of Face

Answer 8

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

Question 9

Dysmorphology

Answer 9

Discipline in human genetics to recognize physical anomalies of human morphology

Question 10

5 Targeted Questions for Medical History

Answer 10

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

Question 11

5 Basic Elements of Pregnancy Genetic Medical History

Answer 11

Parental ages
Maternal disease
Teratogenic Exposures
Fetal development
Prenatal testing

Question 12

3 Basic Elements of Perinatal Genetic Medical History

Answer 12

Gestational age
Delivery complications
Birth weight/length/head circumference

Question 13

3 Basic Elements of Neonatal Genetic Medical History

Answer 13

Complications
Length of Newborn stay
Newborn screening

Question 14

Major vs. Minor Malformations

Answer 14

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

Question 15

Percentage of General Population w/ >0 Anomalies

Answer 15

30%

Question 16

Disease that Becomes More Noticeable w/ Age

Answer 16

Mucopolysaccharidoses (MPS)

Question 17

2 Diseases that Become Less Noticeable w/ Age

Answer 17

Noonan

Beckwith Wiedemann Syndrome (BWS)

Question 18

Hypertelorism

Answer 18

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

Question 19

Telecanthus

Answer 19

Increased intercaranthal distance w/ decreased interpupillary distance

Question 20

Smooth philtrum/small upper lip symptom of

Answer 20

FAS

Question 21

5 Behavioral Abnormalities

Answer 21

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

Question 22

2 Definitions of Multiple Congenital Anomalies (MCA)

Answer 22

2+ major malformations or 3+ minor malformations

Question 23

4 MCAs from Numerical Autosomal Chromosome Abnormalities

Answer 23

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

Question 24

Clinical Features of T21 (9)

Answer 24

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

Question 25

Genetic Causes of DS (3.2)

Answer 25

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

Question 26

Difference b/w Nondisjuction in Mei I and II

Answer 26

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

Question 27

3 Nonviable Robertsonian Inheritances

Answer 27

Monosomy 21 Trisomy 14 Monosomy 14

Question 28

3 Viable Robertsonian Inheritances

Answer 28

Normal Balanced Robertsonian T21

Question 29

Odds of Robertsonian Mother Having baby w/ DS

Answer 29

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

Question 30

5 Tests for T21 Patients

Answer 30

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

Question 31

4 Common Symptoms of Edwards Syndrome (T18)

Answer 31

SGA Clenched hands Prominent occiput Rocker-bottom feet

Question 32

2 Genetic Features of T18

Answer 32

Usually nondisjunction in Mei II | 80% females

Question 33

Turner Syndrome 2 Genetic Features

Answer 33

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

Question 34

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

Answer 34

5p15.2 deletion | De novo deletions usually

Question 35

Williams Syndrome (cause and 3 features)

Answer 35

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

Question 36

DiGeorge Syndrome (cause and source)

Answer 36

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

Question 37

Rubinstein-Taybi Syndrome (cause and 2 symptoms)

Answer 37

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