ABGC Boards Exam Verified 2025
1-3% of children ascertained for autism spectrum disorders have what condition? -
ANSWER-Fragile X
30 percent of people with xeroderma pigmentosum develop what symptoms? -
ANSWER-hearing loss, poor coordination, difficulty walking, loss of intellectual function,
difficulty swallowing/talking, and seizures
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? - ANSWER-Alpha-1-
Antitrypsin deficiency
Acute attack of porphyria and usually associate with increased _______ in urine. -
ANSWER-Porphobilinogen
Alagille follows what inheritance pattern? - ANSWER-AD
Alpert follows what inheritance pattern? - ANSWER-AR, AD and XL
Alpha-1 antitrypsin deficiency follows what inheritance pattern? - ANSWER-AD
Ataxia, diabetes mellitus and optic nerve atrophy? - ANSWER-Friedreich's Ataxia
ATM follows what inheritance pattern? - ANSWER-AR
Bardet-Biedel follows what pattern of inheritance? - ANSWER-AR
Big difference between DMD and BMD? - ANSWER-age of onset, preservation of neck
flexor muscles
Bilateral SNHL, Long QT? - ANSWER-Jervell and Lange-Nielsen
Bilateral SNHL, temporal bone abnormalities, vestibular abnormalities, goiter? -
ANSWER-Pendred
Biochemical testing for biotinidase defitions involves measuring what? - ANSWER-
Normal serum biotinidase enzyme activity
Brugada syndrome follows what inheritance pattern? - ANSWER-AD
Charcot Marie Tooth follows what inheritance pattern? - ANSWER-AD, AR and XL
, Classic PKU is associated with what smell? - ANSWER-Musty, mousy
Cleidocranial dysplasia follows what inheritance pattern? - ANSWER-AD
Coffin-Lowry follows what inheritance pattern? - ANSWER-XL dom
Cone-rod dystrophy, obesity, postaxial polydactyly, gentiourinary malformations? -
ANSWER-Bardet-Biedel
Creatine deficiency disorder diagnosis can be determined by measuring what
metabolites? - ANSWER-Guanidinoacetate, creatine and creatinine in urine and plasma
Cri du Chat is also known as? - ANSWER-5p minus syndrome
Cystinuria is associated with what smell? - ANSWER-Sulfur
Developmental regression, acquired microcephaly and hand wringing movements? -
ANSWER-Rett syndrome
Distal weakness in 1st-3rd decade, hearing loss ad hip dysplasia? - ANSWER-Charcot
Marie Tooth
Distinguishing feature of Trisomy 13 and 18 on prenatal ultrasound? - ANSWER-
holoprosencephaly
Do individuals with hidrotic ectodermal dysplasia have trouble sweating? - ANSWER-No
Does DMD or BMD have calf hemihypertrophy? - ANSWER-DMD
Fabry disease follows what inheritance pattern? - ANSWER-XL dom
Factor VIII deficiency is also known as? - ANSWER-Hemophilia A
Fanconi anemia follows what inheritance pattern? - ANSWER-AD and XL
FAP is associated with what condition of the eye? - ANSWER-congenital hypertrophy of
the retinal pigment epithelium (CHRPE)
Gene associated with Rett? - ANSWER-MECP2
Gene associated with transient neonatal diabetes (TND) - ANSWER-PLAG1
Heart anomaly associated with Rett syndrome? - ANSWER-Long QT
Hemoglobin H is also known as? - ANSWER-Bart's hemoglobin
1-3% of children ascertained for autism spectrum disorders have what condition? -
ANSWER-Fragile X
30 percent of people with xeroderma pigmentosum develop what symptoms? -
ANSWER-hearing loss, poor coordination, difficulty walking, loss of intellectual function,
difficulty swallowing/talking, and seizures
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? - ANSWER-Alpha-1-
Antitrypsin deficiency
Acute attack of porphyria and usually associate with increased _______ in urine. -
ANSWER-Porphobilinogen
Alagille follows what inheritance pattern? - ANSWER-AD
Alpert follows what inheritance pattern? - ANSWER-AR, AD and XL
Alpha-1 antitrypsin deficiency follows what inheritance pattern? - ANSWER-AD
Ataxia, diabetes mellitus and optic nerve atrophy? - ANSWER-Friedreich's Ataxia
ATM follows what inheritance pattern? - ANSWER-AR
Bardet-Biedel follows what pattern of inheritance? - ANSWER-AR
Big difference between DMD and BMD? - ANSWER-age of onset, preservation of neck
flexor muscles
Bilateral SNHL, Long QT? - ANSWER-Jervell and Lange-Nielsen
Bilateral SNHL, temporal bone abnormalities, vestibular abnormalities, goiter? -
ANSWER-Pendred
Biochemical testing for biotinidase defitions involves measuring what? - ANSWER-
Normal serum biotinidase enzyme activity
Brugada syndrome follows what inheritance pattern? - ANSWER-AD
Charcot Marie Tooth follows what inheritance pattern? - ANSWER-AD, AR and XL
, Classic PKU is associated with what smell? - ANSWER-Musty, mousy
Cleidocranial dysplasia follows what inheritance pattern? - ANSWER-AD
Coffin-Lowry follows what inheritance pattern? - ANSWER-XL dom
Cone-rod dystrophy, obesity, postaxial polydactyly, gentiourinary malformations? -
ANSWER-Bardet-Biedel
Creatine deficiency disorder diagnosis can be determined by measuring what
metabolites? - ANSWER-Guanidinoacetate, creatine and creatinine in urine and plasma
Cri du Chat is also known as? - ANSWER-5p minus syndrome
Cystinuria is associated with what smell? - ANSWER-Sulfur
Developmental regression, acquired microcephaly and hand wringing movements? -
ANSWER-Rett syndrome
Distal weakness in 1st-3rd decade, hearing loss ad hip dysplasia? - ANSWER-Charcot
Marie Tooth
Distinguishing feature of Trisomy 13 and 18 on prenatal ultrasound? - ANSWER-
holoprosencephaly
Do individuals with hidrotic ectodermal dysplasia have trouble sweating? - ANSWER-No
Does DMD or BMD have calf hemihypertrophy? - ANSWER-DMD
Fabry disease follows what inheritance pattern? - ANSWER-XL dom
Factor VIII deficiency is also known as? - ANSWER-Hemophilia A
Fanconi anemia follows what inheritance pattern? - ANSWER-AD and XL
FAP is associated with what condition of the eye? - ANSWER-congenital hypertrophy of
the retinal pigment epithelium (CHRPE)
Gene associated with Rett? - ANSWER-MECP2
Gene associated with transient neonatal diabetes (TND) - ANSWER-PLAG1
Heart anomaly associated with Rett syndrome? - ANSWER-Long QT
Hemoglobin H is also known as? - ANSWER-Bart's hemoglobin
