ABGC BOARDS CORE EXAMS MAIN QUESTIONS AND
ANSWERS SURE A+
✔✔What does WAGR stand for? - ✔✔Wilm's tumor, choanal atresia, genital anomalies
and mental retardation
✔✔RR to sibs with one previous child affected with autism and no other family history? -
✔✔5-10%
✔✔Hig resolution chromosome analysis reveals chromosome aneuploidy in that
percentage of individuals with autism spectrum disorders? - ✔✔5%
✔✔1-3% of children ascertained for autism spectrum disorders have what condition? -
✔✔Fragile X
✔✔What syndrome is a hallmark deficiency disorder with which behavioral problems
and self-mutilation are common in addition to ID and seizures? - ✔✔Guaindinoacetate
methyltransferase
✔✔When should the duarte variant of galactossemia be suspected? - ✔✔When
newborn screen is positive, but little to no phenotype is present
✔✔What syndrome is associated with the following triad: dysplastic nails, lacy reticular
pigmentation or the upper chest/neck and oral leukoplakia? - ✔✔Dyskeratosis
Congenita
✔✔What genes are associated with early onset Alzheimers? - ✔✔APP, PSEN1, PSEN2
✔✔What collagen gene is responsible for vascular type EDS? - ✔✔COL3A1
✔✔What percentage of vascular type EDS cases are de novo? - ✔✔50%
, ✔✔How many repeats constitute a full expansion of FMR1? - ✔✔>200 CGGs
✔✔What syndrome is associated with pain crises of the exremities, vascular cutaneous
lesions, sweating abnormalities, corneal lenticular opacities and proteinuria? - ✔✔Fabry
✔✔Fabry disease follows what inheritance pattern? - ✔✔XL dom
✔✔What syndrome is also known as Hurler syndrome? - ✔✔Mucopolysaccharidosis
type 1
✔✔Neonatal diabetes mellitus - ✔✔Insulin-requiring hyperglycemia within the first
month of life
✔✔Incidence of Neonatal diabetes mellitus - ✔✔Estimated incidence of 1 in 400,000
neonates
✔✔How many neonates with neonatal diabetes mellitus resolve within 3 months? -
✔✔half of the neonates, diabetes is transient and resolves at a median age of 3
months, the rest are permanent
✔✔Gene associated with transient neonatal diabetes (TND) - ✔✔PLAG1
✔✔What mechanism is the mechanism of expression in cases of transient neonatal
diabetes? - ✔✔hyper methylation
✔✔Is the UPD that can cause transient neonatal diabetes inherited from maternal or
paternal origins? - ✔✔paternal
✔✔What gene is associated with branchiootorenal spectrum disorders? - ✔✔EYA1
✔✔A 30 year old woman comes in for evaluation because she is experiencing
shortness of breath following mild activity, reduced ability to exercise, and wheezing.
She has also had some unintentional weight loss, respiratory infections, fatigue, and
noticed rapid heartbeat upon standing -- what condition is this consistent with? -
✔✔Alpha-1-Antitrypsin deficiency
✔✔Percent of infants with alpha-1 antitrypsin deficiency develop liver disease? - ✔✔10
✔✔What gene is associated with alpha-1 antitrypsin deficiency? - ✔✔SERPINA1
✔✔Alpha-1 antitrypsin deficiency follows what inheritance pattern? - ✔✔AD
✔✔Limb Girdle follows what inheritance pattern? - ✔✔AR and AD
ANSWERS SURE A+
✔✔What does WAGR stand for? - ✔✔Wilm's tumor, choanal atresia, genital anomalies
and mental retardation
✔✔RR to sibs with one previous child affected with autism and no other family history? -
✔✔5-10%
✔✔Hig resolution chromosome analysis reveals chromosome aneuploidy in that
percentage of individuals with autism spectrum disorders? - ✔✔5%
✔✔1-3% of children ascertained for autism spectrum disorders have what condition? -
✔✔Fragile X
✔✔What syndrome is a hallmark deficiency disorder with which behavioral problems
and self-mutilation are common in addition to ID and seizures? - ✔✔Guaindinoacetate
methyltransferase
✔✔When should the duarte variant of galactossemia be suspected? - ✔✔When
newborn screen is positive, but little to no phenotype is present
✔✔What syndrome is associated with the following triad: dysplastic nails, lacy reticular
pigmentation or the upper chest/neck and oral leukoplakia? - ✔✔Dyskeratosis
Congenita
✔✔What genes are associated with early onset Alzheimers? - ✔✔APP, PSEN1, PSEN2
✔✔What collagen gene is responsible for vascular type EDS? - ✔✔COL3A1
✔✔What percentage of vascular type EDS cases are de novo? - ✔✔50%
, ✔✔How many repeats constitute a full expansion of FMR1? - ✔✔>200 CGGs
✔✔What syndrome is associated with pain crises of the exremities, vascular cutaneous
lesions, sweating abnormalities, corneal lenticular opacities and proteinuria? - ✔✔Fabry
✔✔Fabry disease follows what inheritance pattern? - ✔✔XL dom
✔✔What syndrome is also known as Hurler syndrome? - ✔✔Mucopolysaccharidosis
type 1
✔✔Neonatal diabetes mellitus - ✔✔Insulin-requiring hyperglycemia within the first
month of life
✔✔Incidence of Neonatal diabetes mellitus - ✔✔Estimated incidence of 1 in 400,000
neonates
✔✔How many neonates with neonatal diabetes mellitus resolve within 3 months? -
✔✔half of the neonates, diabetes is transient and resolves at a median age of 3
months, the rest are permanent
✔✔Gene associated with transient neonatal diabetes (TND) - ✔✔PLAG1
✔✔What mechanism is the mechanism of expression in cases of transient neonatal
diabetes? - ✔✔hyper methylation
✔✔Is the UPD that can cause transient neonatal diabetes inherited from maternal or
paternal origins? - ✔✔paternal
✔✔What gene is associated with branchiootorenal spectrum disorders? - ✔✔EYA1
✔✔A 30 year old woman comes in for evaluation because she is experiencing
shortness of breath following mild activity, reduced ability to exercise, and wheezing.
She has also had some unintentional weight loss, respiratory infections, fatigue, and
noticed rapid heartbeat upon standing -- what condition is this consistent with? -
✔✔Alpha-1-Antitrypsin deficiency
✔✔Percent of infants with alpha-1 antitrypsin deficiency develop liver disease? - ✔✔10
✔✔What gene is associated with alpha-1 antitrypsin deficiency? - ✔✔SERPINA1
✔✔Alpha-1 antitrypsin deficiency follows what inheritance pattern? - ✔✔AD
✔✔Limb Girdle follows what inheritance pattern? - ✔✔AR and AD
