©GRACEAMELIA 2024/2025 ACADEMIC YEAR. ALL RIGHTS RESERVED
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
, ©GRACEAMELIA 2024/2025 ACADEMIC YEAR. ALL RIGHTS RESERVED
FIRST PUBLISH OCTOBER 2024
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
Page 2/43
, ©GRACEAMELIA 2024/2025 ACADEMIC YEAR. ALL RIGHTS RESERVED
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
Page 3/43
, ©GRACEAMELIA 2024/2025 ACADEMIC YEAR. ALL RIGHTS RESERVED
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)
Page 4/43
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
, ©GRACEAMELIA 2024/2025 ACADEMIC YEAR. ALL RIGHTS RESERVED
FIRST PUBLISH OCTOBER 2024
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
Page 2/43
, ©GRACEAMELIA 2024/2025 ACADEMIC YEAR. ALL RIGHTS RESERVED
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
Page 3/43
, ©GRACEAMELIA 2024/2025 ACADEMIC YEAR. ALL RIGHTS RESERVED
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)
Page 4/43
