ABGC BOARDS LATEST EXAM STUDYS QUESTIONS
AND ANSWERS SURE A+
✔✔What is not associated with factor V leiden? - ✔✔MI, stroke and arterial thrombosis
✔✔Distal weakness in 1st-3rd decade, hearing loss ad hip dysplasia? - ✔✔Charcot
Marie Tooth
✔✔Charcot Marie Tooth follows what inheritance pattern? - ✔✔AD, AR and XL
✔✔Does DMD or BMD have calf hemihypertrophy? - ✔✔DMD
✔✔Big difference between DMD and BMD? - ✔✔age of onset, preservation of neck
flexor muscles
✔✔Progression of muscle weakness in DMD/BMD? - ✔✔Proximal to distal
✔✔Progressive limb and gait ataxia <25y? - ✔✔Friedreich's Ataxia
✔✔Ataxia, diabetes mellitus and optic nerve atrophy? - ✔✔Friedreich's Ataxia
✔✔Gene associated with Rett? - ✔✔MECP2
✔✔Developmental regression, acquired microcephaly and hand wringing movements? -
✔✔Rett syndrome
✔✔Syndrome associated with violent laugh attacks? - ✔✔Rett syndrome
✔✔Heart anomaly associated with Rett syndrome? - ✔✔Long QT
✔✔What gene is associated with Krabbe disease? - ✔✔GALC
, ✔✔What syndrome is associated with infantile hypertonicity but neurological
deterioration? - ✔✔Krabbe
✔✔Weakness, vision loss and regression? - ✔✔Krabbe
✔✔Typical onset of progressive weakness in Ataxia-Telagiectasia? - ✔✔1-4y
✔✔ATM follows what inheritance pattern? - ✔✔AR
✔✔What condition has an Amish founder mutation? - ✔✔Ataxia Telangiectasia
✔✔Progressive cerebellar ataxia? - ✔✔Ataxia Telangiectasia
✔✔What should individuals with Ataxia Telangiectasia avoid? - ✔✔Ionizing radiation
✔✔What gene is associated with Sotos? - ✔✔NSD1
✔✔Solos follows what inheritance pattern? - ✔✔AD
✔✔Increased body mass, delayed motor/cognitive/verbal/social --phobias, aggression,
seizures, chronic constipation common - ✔✔Sotos
✔✔What syndrome is caused mostly by microdeletions in individuals of Japanese
ancestry and intragenic mutations in non-Japanese? - ✔✔Sotos
✔✔What gene is associated with Canavan syndrome? - ✔✔ASPA
✔✔Macrocephaly, lack of head control, DD by 3-5mo, severe hypotonia? - ✔✔Canavan
✔✔What syndrome is caused by mutations in the IKBKAP gene? - ✔✔Familial
Dysautonomia
✔✔Syndrome characterized by progressive GI dysfunction,recurrent pneumonia,
altered pain/temp sensitivity and breath holding behavior? - ✔✔Familial Dysautonomia
✔✔What gene is responsible for juvenile onset Parkinson's disease? - ✔✔PARK2
✔✔Parkinson's disease follows what inheritance pattern? - ✔✔AD, AR, multifactorial
✔✔What syndrome presents with liver disease? - ✔✔Wilson Disease
✔✔What syndrome can be detected by increased urinary copper secretion? - ✔✔Wilson
Disease
AND ANSWERS SURE A+
✔✔What is not associated with factor V leiden? - ✔✔MI, stroke and arterial thrombosis
✔✔Distal weakness in 1st-3rd decade, hearing loss ad hip dysplasia? - ✔✔Charcot
Marie Tooth
✔✔Charcot Marie Tooth follows what inheritance pattern? - ✔✔AD, AR and XL
✔✔Does DMD or BMD have calf hemihypertrophy? - ✔✔DMD
✔✔Big difference between DMD and BMD? - ✔✔age of onset, preservation of neck
flexor muscles
✔✔Progression of muscle weakness in DMD/BMD? - ✔✔Proximal to distal
✔✔Progressive limb and gait ataxia <25y? - ✔✔Friedreich's Ataxia
✔✔Ataxia, diabetes mellitus and optic nerve atrophy? - ✔✔Friedreich's Ataxia
✔✔Gene associated with Rett? - ✔✔MECP2
✔✔Developmental regression, acquired microcephaly and hand wringing movements? -
✔✔Rett syndrome
✔✔Syndrome associated with violent laugh attacks? - ✔✔Rett syndrome
✔✔Heart anomaly associated with Rett syndrome? - ✔✔Long QT
✔✔What gene is associated with Krabbe disease? - ✔✔GALC
, ✔✔What syndrome is associated with infantile hypertonicity but neurological
deterioration? - ✔✔Krabbe
✔✔Weakness, vision loss and regression? - ✔✔Krabbe
✔✔Typical onset of progressive weakness in Ataxia-Telagiectasia? - ✔✔1-4y
✔✔ATM follows what inheritance pattern? - ✔✔AR
✔✔What condition has an Amish founder mutation? - ✔✔Ataxia Telangiectasia
✔✔Progressive cerebellar ataxia? - ✔✔Ataxia Telangiectasia
✔✔What should individuals with Ataxia Telangiectasia avoid? - ✔✔Ionizing radiation
✔✔What gene is associated with Sotos? - ✔✔NSD1
✔✔Solos follows what inheritance pattern? - ✔✔AD
✔✔Increased body mass, delayed motor/cognitive/verbal/social --phobias, aggression,
seizures, chronic constipation common - ✔✔Sotos
✔✔What syndrome is caused mostly by microdeletions in individuals of Japanese
ancestry and intragenic mutations in non-Japanese? - ✔✔Sotos
✔✔What gene is associated with Canavan syndrome? - ✔✔ASPA
✔✔Macrocephaly, lack of head control, DD by 3-5mo, severe hypotonia? - ✔✔Canavan
✔✔What syndrome is caused by mutations in the IKBKAP gene? - ✔✔Familial
Dysautonomia
✔✔Syndrome characterized by progressive GI dysfunction,recurrent pneumonia,
altered pain/temp sensitivity and breath holding behavior? - ✔✔Familial Dysautonomia
✔✔What gene is responsible for juvenile onset Parkinson's disease? - ✔✔PARK2
✔✔Parkinson's disease follows what inheritance pattern? - ✔✔AD, AR, multifactorial
✔✔What syndrome presents with liver disease? - ✔✔Wilson Disease
✔✔What syndrome can be detected by increased urinary copper secretion? - ✔✔Wilson
Disease
