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
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
