Neural Tube Defects
1) Which nutrient is most crucial in preventing neural tube defects?
A) Vitamin B12
B) Folic acid
C) Iron
D) Zinc
B) Folic acid
1) Which test is commonly used to screen for inborn errors of metabolism in newborns?
A) Complete blood count
B) Tandem mass spectrometry
C) X-ray
D) MRI
B) Tandem mass spectrometry
1) Which neurotransmitter is primarily involved in depression?
A) Dopamine
B) Acetylcholine
C) Serotonin
D) GABA
C) Serotonin
1) Which of the following is a classic example of multifactorial inheritance?
A) Hemophilia
B) Cystic fibrosis
C) Cleft lip and palate
D) Huntington disease
C) Cleft lip and palate
1) Which of the following is a common endocrine disorder characterized by insulin resistance?
A) Addison’s disease
B) Cushing syndrome
C) Diabetes mellitus type 2
D) Diabetes insipidus
C) Diabetes mellitus type 2
2) Neural tube defects usually occur during which stage of pregnancy?
A) First trimester
B) Second trimester
C) Third trimester
D) Postnatal
A) First trimester
2) Which of the following is a glycogen storage disease?
A) Tay-Sachs disease
B) Pompe disease
C) PKU
D) Homocystinuria
B) Pompe disease
2) Which of the following is considered a psychotic disorder?
A) Generalized anxiety disorder
B) Bipolar disorder
C) Schizophrenia
D) OCD
C) Schizophrenia
2) Multifactorial diseases involve:
A) Only genes
B) Only environment
C) Both genes and environment
D) None of the above
C) Both genes and environment
2) Which hormone regulates heart rate and metabolic rate?
A) Insulin
B) Cortisol
C) Thyroxine (T4)
D) ADH
C) Thyroxine (T4)
3) Which gene is most commonly associated with neural tube closure defects?
A) MTHFR
B) BRCA1
C) CFTR
D) APC
A) MTHFR
3) Maple syrup urine disease results from a defect in the metabolism of which amino acids?
A) Aromatic
B) Branched-chain
C) Sulfur-containing
D) Basic
B) Branched-chain
3) Which gene has been strongly implicated in the heritability of schizophrenia?
A) HTT
B) COMT
C) SERT
D) FMR1
B) COMT
3) Which of the following statements is true for multifactorial inheritance?
A) It follows Mendel’s law of segregation
B) Recurrence risk is the same in all siblings
C) Risk is higher if the proband is severely affected
D) It requires a single gene mutation
C) Risk is higher if the proband is severely affected
3) Which gene mutation is commonly associated with familial hypercholesterolemia?
A) LDLR
B) HBA1
C) RET
D) MEN1
A) LDLR
4) A newborn presents with an open spinal lesion, weakness in lower limbs, and hydrocephalus. What is the most likely diagnosis?
A) Anencephaly
B) Spina bifida occulta
C) Myelomeningocele
D) Encephalocele
C) Myelomeningocele
4) A child presents with lethargy, vomiting, and high ammonia levels. The baby has a known family history of urea cycle disorders. Which enzyme is most likely deficient?
A) Phenylalanine hydroxylase
B) Ornithine transcarbamylase
C) Glucose-6-phosphatase
D) Alpha-glucosidase
B) Ornithine transcarbamylase
3) A 23-year-old man presents with delusions, auditory hallucinations, and social withdrawal for the past 8 months. What is the likely diagnosis?
A) Brief psychotic disorder
B) Bipolar I disorder
C) Schizophrenia
D) Schizoaffective disorder
C) Schizophrenia
4) A couple has a child born with a cleft palate. There’s no family history, but the mother smoked and had poor nutrition. What’s the likely inheritance pattern?
A) X-linked
B) Autosomal dominant
C) Mitochondrial
D) Multifactorial
D) Multifactorial
4) A 45-year-old male presents with chest pain, sweating, and elevated troponins. His father had a heart attack at 50. He smokes and has uncontrolled diabetes. What factors are contributing to his condition?
A) Purely genetic
B) Only environmental
C) Multifactorial (genetic + lifestyle)
D) Endocrine only
C) Multifactorial (genetic + lifestyle)
5) Which of the following is not a type of neural tube defect?
A) Anencephaly
B) Spina bifida
C) Hydrocephalus
D) Encephalocele
C) Hydrocephalus
5) Which metabolic disorder can mimic sepsis in newborns due to lactic acidosis and hypotonia?
A) Galactosemia
B) MCAD deficiency
C) Tay-Sachs
D) Von Gierke disease
A) Galactosemia
5) Which of the following psychiatric conditions has the lowest genetic concordance in monozygotic twins?
A) Schizophrenia
B) Bipolar disorder
C) Panic disorder
D) Major depressive disorder
D) Major depressive disorder
5) Which statement is incorrect regarding multifactorial inheritance?
A) It has a threshold effect
B) It can show familial aggregation
C) Single mutations cause the disease
D) Environmental factors influence risk
C) Single mutations cause the disease
5) Which of the following conditions can be both a cardiovascular and an endocrine disorder?
A) Hyperthyroidism
B) Atherosclerosis
C) Pheochromocytoma
D) Addison’s disease
C) Pheochromocytoma