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ABGC Boards Exam Questions And Answers
|Latest 2025 | Guaranteed Pass
When a family has multiple individuals in a family have pancreatic cancer, is this more likely to
be due to a mutation in BRCA1 or BRCA2? - Answer✔BRCA2
What genes are associated with Noonan syndrome? - Answer✔PTPN11, SOS1, KRAS
What heart defects can be seen in Noonan syndrome? - Answer✔Pulmonary valve stenosis and
hypertrophic cardiomyopathy
Noonan syndrome follows what inheritance pattern? - Answer✔AD
What syndrome is associated with dysmorphic facies, short stature, cryptorchidism, renal
malformations, scoliosis, lymphedema, hematological disorders? - Answer✔Noonan syndrome
What genes are associated with HHT? - Answer✔ACVRL1, ENG, SMAD4
HHT follows what inheritance pattern? - Answer✔AD
What percentage of Tuberous Sclerosis is de novo? - Answer✔2/3
What major systems are affected by Tuberous Sclerosis? - Answer✔Skin, CNS, Renal, Lung,
Heart and Eye
1
, ©BRIGHTSTARS 2025 ALL RIGHTS RESERVED 9:46 AM A+
Prenatal ultrasound suggestive of Tuberous Sclerosis? - Answer✔Rhabdomyoma
Skin features of Tuberous Sclerosis? - Answer✔Facial angiofibroma, shagreen pathc and ungual
fibromata
Tuberous sclerosis can have a contiguous gene deletion involving what other disorder? -
Answer✔PKD
Three cancers associated with VHL? - Answer✔Hemangioblastoma, pheochromocytoma and
RCC
What does CHARGE stand for? - Answer✔Coloboma, Heart anomaly, choanal atresia, mental
retardation, genitourinary anomalies and ear anomalies
Cri du Chat is also known as? - Answer✔5p minus syndrome
What percentage of Cri du Chat cases are de novo deletions? - Answer✔85
Rubenstein Taybi follows what inheritance pattern? - Answer✔AD
What syndrome is characterized by microcephaly, beaked nose, broad thumbs and toes, sleep
apnea and strabimus - Answer✔Rubenstein Taybi
Triploidy accounts for what percentages of SABs? - Answer✔6-10%
Maternal triploidy results in? - Answer✔Small placenta, severe asymmetrical IUGR, large head
Paternal triploidy results in? - Answer✔Hydrophic large placenta, moderate IUGR, normal or
microcephalic head
2
ABGC Boards Exam Questions And Answers
|Latest 2025 | Guaranteed Pass
When a family has multiple individuals in a family have pancreatic cancer, is this more likely to
be due to a mutation in BRCA1 or BRCA2? - Answer✔BRCA2
What genes are associated with Noonan syndrome? - Answer✔PTPN11, SOS1, KRAS
What heart defects can be seen in Noonan syndrome? - Answer✔Pulmonary valve stenosis and
hypertrophic cardiomyopathy
Noonan syndrome follows what inheritance pattern? - Answer✔AD
What syndrome is associated with dysmorphic facies, short stature, cryptorchidism, renal
malformations, scoliosis, lymphedema, hematological disorders? - Answer✔Noonan syndrome
What genes are associated with HHT? - Answer✔ACVRL1, ENG, SMAD4
HHT follows what inheritance pattern? - Answer✔AD
What percentage of Tuberous Sclerosis is de novo? - Answer✔2/3
What major systems are affected by Tuberous Sclerosis? - Answer✔Skin, CNS, Renal, Lung,
Heart and Eye
1
, ©BRIGHTSTARS 2025 ALL RIGHTS RESERVED 9:46 AM A+
Prenatal ultrasound suggestive of Tuberous Sclerosis? - Answer✔Rhabdomyoma
Skin features of Tuberous Sclerosis? - Answer✔Facial angiofibroma, shagreen pathc and ungual
fibromata
Tuberous sclerosis can have a contiguous gene deletion involving what other disorder? -
Answer✔PKD
Three cancers associated with VHL? - Answer✔Hemangioblastoma, pheochromocytoma and
RCC
What does CHARGE stand for? - Answer✔Coloboma, Heart anomaly, choanal atresia, mental
retardation, genitourinary anomalies and ear anomalies
Cri du Chat is also known as? - Answer✔5p minus syndrome
What percentage of Cri du Chat cases are de novo deletions? - Answer✔85
Rubenstein Taybi follows what inheritance pattern? - Answer✔AD
What syndrome is characterized by microcephaly, beaked nose, broad thumbs and toes, sleep
apnea and strabimus - Answer✔Rubenstein Taybi
Triploidy accounts for what percentages of SABs? - Answer✔6-10%
Maternal triploidy results in? - Answer✔Small placenta, severe asymmetrical IUGR, large head
Paternal triploidy results in? - Answer✔Hydrophic large placenta, moderate IUGR, normal or
microcephalic head
2
