Download Lecture 3 handout

P020A: Handout 3
I.
Explain the important role of genetic counseling.
a. Issues related to ____________________ disorders
i. Prenatal testing
1. _______________ sonography
a. Detect _____________________ abnormalities
2. _________________ ( amniotic fluid + ________ cells)
3. F ____________ B ______________ S ________________
a. Detects _________________________ abnormalities
ii. _____________ - based genetic testing
II.
Identify the various morphological features commonly seen in the D.D. client: Head & face; Eyes;
Extremities
a. Head
i. Head __________________________________
1. Microcephaly: __________________________________________________
ii. Unusual __________________ whorls
iii. Microtia: ____________________________________________________________
iv. Hypoplastic ear: _______________________________________________________
v. _________- set ear
vi. Micrognathia: _________________________________________________________
vii. Prognathia: ___________________________________________________________
viii. Hydrocephaly: AKA ______________ on the brain: D.T. _______________________
ix. Scaphocephaly: _______________________________________________________
b. Eyes
i. ___________________
ii. Dysconjugate eye ______________________: _______________________________
iii. Epicanthal ____________________________________________________________
iv. Ptosis: _______________________________________________________________
v. Anisocoria: ___________________________________________________________
vi. Exophthalmos: ________________________________________________________
Elizabeth Keele
Handout #3
4/30/2017
1
vii. Strabismus: ___________________________________________________________
viii. Setting sun: __________________________________________________________
ix. Nystagmus: __________________________________________________________
x. Ocular hypertelorism: __________________________________________________
xi. _______________ slant: AKA mongoloid slant: ______________________________
c. Extremities
i. Transverse _____________________ crease: _______________________________
ii. Edema: ______________________________________________________________
iii. _______________- gap deformity
iv. Syndactyly: ___________________________________________________________
v. Pes Planus: __________________________________________________________
vi. Talipes equinus: ______________________________________________________
vii. Pectus excavatum: ____________________________________________________
viii. Hypotonia: __________________________________________________________
III.
Differentiate between the following types of abnormal cell divisions: Non-disjunctive; Crossing
over; Translocation
a. Non-disjunctive: Failure of the chromosome to ___________________ properly
b. Crossing-over: Not an ______________________cell division
i. Occurs only in: ____________________________________
ii. Allows for _________________________
c. Translocation: During ____________________part of the chromosome ________________
and ________________ to another chromosome
d. Abnormal cell division: most _________________ with life  spontaneous ______________
IV.
Describe the main features seen in the following autosomal disorders: Downs Syndrome;
Edward’s Syndrome (Trisomy 18); Patau Syndrome (Trisomy 13 – 15); Cri Du Chat Syndrome;
Prader-Willi Syndrome; Angelman Syndrome
a. Down Syndrom
i. AKA: ________________________________________________________________
ii. Assoc with : __________________________________________________________
iii. ID __________________________________________________________________
iv. Common physical features:
1. ____________ stature
Elizabeth Keele
Handout #3
4/30/2017
2
2. _________________ eye slant
3. _________________ folds
4. Brushfield ________________: White/gray spots on the edge of the ______
5. Protruding ___________________________
6. ____________ flattened skull
7. _____________________ palmar crease
8. _____________ broad hands with _____________________________
v. Common Problems
1. _________________________ infections
2. _________________________ abnormalities
3. _________ problems
4. __________________
5. __________________
6. __________________/ hearing
vi. Common Treatments
b. Edward’s Syndrome
i. AKA: ___________________________________
ii. Chromosome:______________________
iii. Male vs. Female: ________________________________
iv. Associated with ______________________________
v. _______________________ life expectancy
vi. Common features
1. ID:_____________________________________________
2. _______________________________
3. Prominent _____________________________
4. Micro_________________________________
5. Ocular Hyper_________________________________
6. _______________________________________
7. ______________ set ears
8. _________________________ hernia
9. Undescended ________________: ______________________________
10. ________________________ hands
Elizabeth Keele
Handout #3
4/30/2017
3
11. Underdeveloped ______________________________
12. ___________________ foot & ________________ toes
13. Hyper or hypo ________________________
14. _______________________________
15. ____________________ abnormalities
16. _______________________
vii. Common Treatment
1. Anti- ___________________________________
2. ____________________________ care
c. Patau Syndrome
i. AKA: ________________________________________
ii. Common features
1. Poly ________________________________
2. ____________________________________
3. ____________________________________
4. Micro_______________________________
5. ____________________ lip/ palate
6. Abnormal ___________
7. _______________________ & _________________ anomalies
8. Proboscis
9. ______________ life expectancy
iii. Common treatment
1. __________________________ care
d. Cri Du Chat Syndrome
i. AKA: _______________________ syndrome
ii. Chromosome ___________________: partial __________________________
iii. Female ____________ male
iv. Common Features
1. __________________________ cry
2. __________________________ birth weight
3. Micro__________________________
4. Hypo__________________________
Elizabeth Keele
Handout #3
4/30/2017
4
5. Hyper__________________________
6. ________________________ defects
7. ________________________________ slant
8. Micro________________________________
9. ________________ head, ________________ set ears
10. ____________________ fingers & toes
11. Trans ____________________________ crease
v. Common problems
1. ID __________________________________
2. _____________________ skills
3. ___________________________ deficit
vi. Common Treatment
1. ____________________________
2. ____________________________
3. ____________________________
e. Prader-Willi Syndrome
i. Chromosome_________________: _________________________________
ii. Common Features
1. ID _______________________
2. Under-developed ______________________ organs
3. Ineffective ______________________ patterns
iii. Common problems
1. ___________________________
2. Hyper________________________________
3. Hypo_____________________________
4. Hypo_____________________________
5. ID / _____________________ disabilities
iv. Common Treatment
1. ____________________________ modification
2. ____________________________ management
3. ___________________
4. ___________________ hormone
Elizabeth Keele
Handout #3
4/30/2017
5
f.
Angelman Syndrome
i. AKA: _______________________________________________________
ii. Chromosome: ___________________: ____________________________
iii. Common features
1. ____________ head, wide ________________________________
2. ___________________ upper lip
3. __________________________ chin
4. Prominent ____________________________
5. Frequent ________________________________
6. __________________________________ when excited
iv. Common problems
1. ID: ___________________________________
2. Disparity between _________________ & ___________________ language
3. ____________________ disorder
4. ____________________ gait
5. Micro__________________________________
6. _______________________________________
7. _______________________________________
8. Hyper __________________________________
v. Common treatment
1. ________________________ control
2. __________________________________ therapy
3. ______________________ mod.
4. ___________________________________ devices
V.
Describe the key features associated with the following disorders of the sex chromosomes:
Klinefelter’s Syndrome ; XYY males ; XXX females; Turner Syndrome; Fragile X
a. Klinefelter’s Syndrome
i. AKA: ________________
ii. Affects:_____________________
iii. Common features
1. _________________
2. _____________________breasts
Elizabeth Keele
Handout #3
4/30/2017
6
3. ____________________________ under-development
4. ____________ 2nd sex characteristics
5. ID: _____________________________________
iv. Common problems
1. ____________________
2. ____________________ disability
3. ____________________ disturbance
4. ____________________ problems
v. Treatment
1. _________________________ therapy
2. _________________________
3. Surgery
4. _________________________ modification
b. Turner’s syndrome
i. AKA: _______________________dysgenesis
1. ___________ syndrome
ii. Affects: _______________________
iii. Common features
1. ID___________________________________________
2. Life expectancy: _______________________________
3. __________________ statue
4. Webbed ______________________________
5. Low _______________________ (in back)
6. Low set ______________________
7. _____________ ovarian function
iv. Common problems
1. _________________________________
2. Constricted ________________________
3. Hyper_____________________________
4. __________________________ problems
5. Hypo______________________________
6. __________________________________
Elizabeth Keele
Handout #3
4/30/2017
7
7. __________________________________
v. Treatment
1. ______________ cure
2. Hormones: __________________________________________________
c. XYY
i. AKA_____________________________
ii. Affects: ____________________________
iii. Assoc: with _______________________________
iv. Common features:
1. ___________ growth during _____________________________________
2. Severe _______________________
3. ID: __________________________________________________________
v. Common problems
1. __________ physical activity
2. __________ sperm quality
3. ID:_____________________________________
4. ______________________ mental maturity
5. __________________________
6. Aggressive & ____________________________ behavior
vi. Treatment:
1. __________________________ physical activity appropriately
2. __________________________ modification
3. _________________ treatment
4. __________________________
d. XXX
i. AKA: _______________________
ii. Affects: ________________________
iii. Common features
1. ID: If __________________________________________________________
iv. Common problems
1. ID______________________
2. ___________ growth
Elizabeth Keele
Handout #3
4/30/2017
8
3. ____________ adjustment _________________________
e. Fragile X
i. AKA: _____________ - __________________ syndrome
ii. Etiology: long arm _____________ = “fragile site”
iii. Affects: __________________________________________
iv. Common features
1. ______________ ears
2. ______________ face
3. Prominent ________________
4. _________________
5. Enlarged ________________
6. __________________ feet
7. Strabismus
8. ______________________ problems
9. ______________________ ________________hands
v. Common problems
1. _____________________ deficit
2. ___________________________
3. Hand ________________________ & ________________________
4. ____________________________ like behavior
5. Aversion to ________________________
6. ID: _______________________________
vi. Treatment:
1. _______________________ ed
2. _________________________
3. _________________________
VI.
Describe the key features associated with the following dominant inheritance syndromes:
Tuberous sclerosis; Neurofibromatosis; Nevoid amentia; Craniostenosis; Apert’s Syndrome;
Crouzon’s syndrome; Marfa’s Syndrome
a. Tuberous sclerosis
i. AKA: Bourneville- __________________________ syndrome
ii. Etiology: Chromosome _________________ & _____________________
Elizabeth Keele
Handout #3
4/30/2017
9
iii. Results in : diverse ______________________________
iv. Common features
1. ___________________________ (Heart, brain, eyes, kidneys,skin etc.)
2. Triad disease
a. ____________________________
b. ____________________________
c. Adenoma _____________________________________
3. _____________________________ rash
v. Common problems
1. Progressive __________________________________
2. ID: ___________________________________________________
vi. Common Treatment
1. _______________________ is key!
2. _______________________ control
3. _______________________
b. Neurofibromatosis
i. ____________ types:
ii. Etiology: Chromosomes ________________ & ____________________
iii. Common features
1. ________________________________ spots
2. Skin ___________________________
3. ________________________ & _________________ tumors
4. Diffuse ___________________________________
5. _________________________________________
6. ID: _______________________________________
iv. Common problem
1. __________________________  ______________________________
v. Treatment
1. _______________________
2. _______________________
c. Nevoid amentia
i. A variant of ____________________________________ syndrome
Elizabeth Keele
Handout #3
4/30/2017
10
ii. Common features
1. Prominent _________________________________ skin rash
a. AKA _________________________________________
2. ID: _______________________________
3. __________________________________
iii. Common problems
1. ________________
2. ________________
3. ________________
4. ________________ defects
5. ________________
6. ________________Seizures
7. C/O____________________
iv. Common Treatment
1. ____________________ rx
2. ____________________ care
3. _________________________
4. _________________________
5. _________________________ for stain
d. Craniostenosis
i. Infant _______________________ prematurely _________________________
e. Apert’s Syndrome
i. AKA: Acrocephalosyndactyly
ii. Etiology: Gene on chrom. __________________________
iii. Often assoc. with : ___________________________________________
iv. Common Features
1. ___________________________ closure of cranial ___________________
2. __________________ fingers and toes
3. ID: _________________________
v. Common Problems
1. ___________________ digits
2. Malocculusion of ____________________
Elizabeth Keele
Handout #3
4/30/2017
11
3. ____________________ problem
4. ____________________ palate
vi. Common Treatment
1. Surgery
2. _____________________________________
3. _____________________________________
4. Ear ________________________________
f.
Crouzon’s syndrome
i. AKA ___________________________Dystosis
1. Similar to Apert’s, but no _________________________________
ii. Common features
1. Premature closure of the _____________________________ bones
2. _______________________________
3. _______________________________
4. ID
iii. Common problems
1.  __________________________________
2.  __________________________________
3.  __________________________________
4.  __________________________________
iv. Common treatment
g. Marfa’s Syndrome
i. AKA : Arachnodactyly
ii. Chrom_________________–
iii. ________________________ tissue disorder
iv. Affect ( heart, skeleton, blood vessels, NS, skin, lungs )
v. Common features
1. __________________ narrow face
2. __________________ feet
3. Protruding or indented ___________________________________
4. ______________ length long bone
5. ID: _________________________
Elizabeth Keele
Handout #3
4/30/2017
12
vi. Common problems
1. ______________________ problems
2. ______________________
3. Lens / ___________________
4. Learning ______________________________
vii. Common treatment
1. ______________________________________
Elizabeth Keele
Handout #3
4/30/2017
13