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NU 318 Genetics Exam II Practice Questions and Answers $12.49   Add to cart

Exam (elaborations)

NU 318 Genetics Exam II Practice Questions and Answers

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  • Course
  • NU 318/317
  • Institution
  • NU 318/317

NU 318 Genetics Exam II Practice Questions and Answers When would a medical professional make a genetics referral? - Ans:-1. risk stratification 2. red flags for genetic referral - SCREEN - FGENES What are the 2 genetic referral mneumonics? - Ans:-SCREEN -some concern - reproduction (pregna...

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  • October 23, 2024
  • 43
  • 2024/2025
  • Exam (elaborations)
  • Questions & answers
  • NU 318/317
  • NU 318/317
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FIRST PUBLISH OCTOBER 2024




NU 318 Genetics Exam II Practice
Questions and Answers


When would a medical professional make a genetics referral? - Ans:✔✔-1. risk stratification


2. red flags for genetic referral


- SCREEN


- FGENES


What are the 2 genetic referral mneumonics? - Ans:✔✔-SCREEN


-some concern


- reproduction (pregnancy)


- early disease/death


- ethnicity


non-genetic (risk factors)




Page 1/43

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FGENES


- family history


- group of genetic anomalies


- extreme presentation of diseases


- neurodevelopmental delay


- extreme pathology


- surprising laboratory value


What are requirements for a pedigree? - Ans:✔✔-- 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




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FIRST PUBLISH OCTOBER 2024




- 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? - Ans:✔✔-- some can be normal and can be affected by amount of

penetrance


What is dysmorphology? - Ans:✔✔-= a painful shape; congenital abnormalities due to abnormal changes

in development


Noonan Syndrome: - Ans:✔✔-Triangular-shaped face


Widely spaced eyes


Downward-slanting eyes


Drooping eyelids


Low set ears


High nasal bridge


Short webbed neck


Congenital Heart Defects


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FIRST PUBLISH OCTOBER 2024




Noonan Syndrome: Major anomolies - Ans:✔✔-- 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 - Ans:✔✔-- 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 - Ans:✔✔-= 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)

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