100% satisfaction guarantee Immediately available after payment Both online and in PDF No strings attached
logo-home
NU 318 Genetics Exam II Guide With Complete Solution $11.99   Add to cart

Exam (elaborations)

NU 318 Genetics Exam II Guide With Complete Solution

 5 views  0 purchase
  • Course
  • NU 318
  • Institution
  • NU 318

NU 318 Genetics Exam II Guide With Complete Solution...

Preview 4 out of 39  pages

  • September 22, 2024
  • 39
  • 2024/2025
  • Exam (elaborations)
  • Questions & answers
  • NU 318
  • NU 318
avatar-seller
Belina
NU 318 Genetics Exam II Guide
With 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

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

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

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)

72042 documents were sold in the last 30 days

Founded in 2010, the go-to place to buy study notes for 14 years now

Start selling
$11.99
  • (0)
  Add to cart