ABGC BOARDS CORRECT TEST PAPER QUESTIONS
AND ANSWERS SURE A+
✔✔What gene produced Connexin 30? - ✔✔GJB6
✔✔Cone-rod dystrophy, obesity, postaxial polydactyly, gentiourinary malformations? -
✔✔Bardet-Biedel
✔✔Bardet-Biedel follows what pattern of inheritance? - ✔✔AR
✔✔Alagille follows what inheritance pattern? - ✔✔AD
✔✔What percentage of Alagille cases are de novo? - ✔✔50-70%
✔✔What genes are responsible for Alagille syndrome? - ✔✔JAG1, Notch2
✔✔Peripheral artery disease, cholestasis, butterfly vertebrae, eye abnormalities,
development/growth delay? - ✔✔Alagille
✔✔Bilateral SNHL, Long QT? - ✔✔Jervell and Lange-Nielsen
✔✔What syndrome is caused by mutations in KCNQ1 and KCNE1? - ✔✔Jervell and
Lange-Nielsen
✔✔Jervell and Lange-Nielsen follows what inheritance pattern? - ✔✔AR
✔✔Bilateral SNHL, temporal bone abnormalities, vestibular abnormalities, goiter? -
✔✔Pendred
✔✔What gene is responsible for Pendred syndrome? - ✔✔SLC26A4
, ✔✔HL and retinitis pigmentosa? - ✔✔USHER
✔✔What syndrome is associated with seizures, hypotonia, vision/HL, combined with
rash, alopecia and/or candidiasis? - ✔✔Biotinidase deficiency
✔✔Biochemical testing for biotinidase defitions involves measuring what? - ✔✔Normal
serum biotinidase enzyme activity
✔✔What syndrome is characterized by cranisynostosis, hypo plastic clavicles and
dental anomalies? - ✔✔Cleidocranial Dysplasia
✔✔What heart defect is associated with lithium use during pregnancy? - ✔✔Ebsteins
anomaly
✔✔What syndrome is associated with post natal growth failure, progressive
microcephaly, cutaneous photosensitivity, dental abnormalities, SNHL and cataracts? -
✔✔Cockanye
✔✔What syndrome is associated with ID, microcephaly, short, soft hyperexstensible
tapering fingers with narrow/small nails, stimulus induced drop attacks, progressive
kyphoscoliosis? - ✔✔Coffin-Lowry
✔✔Coffin-Lowry follows what inheritance pattern? - ✔✔XL dom
✔✔Prevalence of congenital diaphragmatic hernia? - ✔✔1/3000
✔✔Mutations in what gene account for the majority of cornelia de lange syndrome? -
✔✔NIPBL
✔✔Creatine deficiency disorder diagnosis can be determined by measuring what
metabolites? - ✔✔Guanidinoacetate, creatine and creatinine in urine and plasma
✔✔Percentage of 22q11.2 deletion syndrome cases that are de novo? - ✔✔93%
✔✔What gene is associated with 21-OHD? - ✔✔CYP21AR
✔✔Fanconi anemia follows what inheritance pattern? - ✔✔AD and XL
✔✔What syndrome is associated with progressive renal insufficiency, progressive
bilateral SNHL and anterior lenticonus? - ✔✔Alport
✔✔Alpert follows what inheritance pattern? - ✔✔AR, AD and XL
AND ANSWERS SURE A+
✔✔What gene produced Connexin 30? - ✔✔GJB6
✔✔Cone-rod dystrophy, obesity, postaxial polydactyly, gentiourinary malformations? -
✔✔Bardet-Biedel
✔✔Bardet-Biedel follows what pattern of inheritance? - ✔✔AR
✔✔Alagille follows what inheritance pattern? - ✔✔AD
✔✔What percentage of Alagille cases are de novo? - ✔✔50-70%
✔✔What genes are responsible for Alagille syndrome? - ✔✔JAG1, Notch2
✔✔Peripheral artery disease, cholestasis, butterfly vertebrae, eye abnormalities,
development/growth delay? - ✔✔Alagille
✔✔Bilateral SNHL, Long QT? - ✔✔Jervell and Lange-Nielsen
✔✔What syndrome is caused by mutations in KCNQ1 and KCNE1? - ✔✔Jervell and
Lange-Nielsen
✔✔Jervell and Lange-Nielsen follows what inheritance pattern? - ✔✔AR
✔✔Bilateral SNHL, temporal bone abnormalities, vestibular abnormalities, goiter? -
✔✔Pendred
✔✔What gene is responsible for Pendred syndrome? - ✔✔SLC26A4
, ✔✔HL and retinitis pigmentosa? - ✔✔USHER
✔✔What syndrome is associated with seizures, hypotonia, vision/HL, combined with
rash, alopecia and/or candidiasis? - ✔✔Biotinidase deficiency
✔✔Biochemical testing for biotinidase defitions involves measuring what? - ✔✔Normal
serum biotinidase enzyme activity
✔✔What syndrome is characterized by cranisynostosis, hypo plastic clavicles and
dental anomalies? - ✔✔Cleidocranial Dysplasia
✔✔What heart defect is associated with lithium use during pregnancy? - ✔✔Ebsteins
anomaly
✔✔What syndrome is associated with post natal growth failure, progressive
microcephaly, cutaneous photosensitivity, dental abnormalities, SNHL and cataracts? -
✔✔Cockanye
✔✔What syndrome is associated with ID, microcephaly, short, soft hyperexstensible
tapering fingers with narrow/small nails, stimulus induced drop attacks, progressive
kyphoscoliosis? - ✔✔Coffin-Lowry
✔✔Coffin-Lowry follows what inheritance pattern? - ✔✔XL dom
✔✔Prevalence of congenital diaphragmatic hernia? - ✔✔1/3000
✔✔Mutations in what gene account for the majority of cornelia de lange syndrome? -
✔✔NIPBL
✔✔Creatine deficiency disorder diagnosis can be determined by measuring what
metabolites? - ✔✔Guanidinoacetate, creatine and creatinine in urine and plasma
✔✔Percentage of 22q11.2 deletion syndrome cases that are de novo? - ✔✔93%
✔✔What gene is associated with 21-OHD? - ✔✔CYP21AR
✔✔Fanconi anemia follows what inheritance pattern? - ✔✔AD and XL
✔✔What syndrome is associated with progressive renal insufficiency, progressive
bilateral SNHL and anterior lenticonus? - ✔✔Alport
✔✔Alpert follows what inheritance pattern? - ✔✔AR, AD and XL
