Exam (elaborations)
NU 318 Genetics Exam II Guide With Complete Solution
- Course
- Institution
NU 318 Genetics Exam II Guide With Complete Solution...
[Show more]
Content preview
NU 318 Genetics Exam II GuideWith Complete Solution
When would a medical professional make a genetics referral? - ANSWER 1.
risk stratification
2. red flags for genetic referral
- SCREEN
- FGENES
What are the 2 genetic referral mneumonics? - ANSWER SCREEN
-some concern
- reproduction (pregnancy)
- early disease/death
- ethnicity
non-genetic (risk factors)
FGENES
- family history
- group of genetic anomalies
- extreme presentation of diseases
- neurodevelopmental delay
- extreme pathology
,- surprising laboratory value
What are requirements for a pedigree? - ANSWER - must contain at least 3
generations
- use roman numerals for each generation
- use of Arabic numerals from left to right for each individual in each
generation
- include ethnicity since each one has disparities
- sign and date
- indicate the proband
- twins share the same spot
- brackets around people who left family
- pregnancy loss is a small diamond symbol
- double lines are partners related by blood (incest)
What makes an anomaly so difficult? - ANSWER - some can be normal and
can be affected by amount of penetrance
What is dysmorphology? - ANSWER = a painful shape; congenital
abnormalities due to abnormal changes in development
Noonan Syndrome: - ANSWER Triangular-shaped face
Widely spaced eyes
Downward-slanting eyes
Drooping eyelids
,Low set ears
High nasal bridge
Short webbed neck
Congenital Heart Defects
Noonan Syndrome: Major anomolies - ANSWER - serious: cognitive
impairment, heart defects, renal agenesis
- require medical or surgical intervention to improve quality of life
- serious cosmetic effects
Noonan Syndrome: Minor anomalies and example - ANSWER - cosmetic
consequences
- 4% of population have these; more common than major
- several minor anomalies lead to a diagnosis
ex: Clinodactyly
- pinkie finger curves outward
- common in people with Trisomy 21 (D.S.)
Define malformation and example - ANSWER = Developmental defect
occurring in utero
- can be genetic or environmental factors
ex: Cleft lip or palate (failure of tissue to fuse together in fetal development)
Define deformation and example - ANSWER = effect of physical or
mechanical force that prevents proper growth of a structure that would have
, normally developed
ex: Twins/multiples
- usually smaller
Define disruptions and examples - ANSWER = normal development process
is disrupted by some factor that results in destruction of the tissue
ex: Prenatal drug exposure, prenatal trauma, infections
Define dysplasia and example - ANSWER = change in shape of organization
of cells that is common in single gene disorders
ex: Ectodermal dysplasia
Define syndrome vs sequence and example - ANSWER syndrome= collection
of features with consistent patters with same cause
ex: in Trisomy 21 there are common features that majority of other people
with 21 also have
sequence= one particular issue/anomaly there is a domino-like effect causing
another problem, then another, and another
ex: Pierre Robin Sequence (small jaw resulting in trouble with cleft palate and
lip development due to decreased room- also respiratory issues since tongue
development may also be interfered)
What is an association? - ANSWER = a collection of features that occur
together but the features relationships are UNCLEAR
- associations can become into sequences or syndromes
Define gestalt - ANSWER = overall impression, looking at all the pieces
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller Belina. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $11.99. You're not tied to anything after your purchase.
Can Stuvia be trusted?
4.6 stars on Google & Trustpilot (+1000 reviews)
77016 documents were sold in the last 30 days
Founded in 2010, the go-to place to buy study notes for 14 years now