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Exam (elaborations)

NU 318 Genetics Exam II Guide With Complete Solution

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  • NU 318
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  • NU 318

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

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  • September 22, 2024
  • 39
  • 2024/2025
  • Exam (elaborations)
  • Questions & answers
  • NU 318
  • NU 318
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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

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