Q21. The mode of inheritance in patients with Pompe
disease (glycogenosis II) is:
- Autosomal recessive
- Autosomal dominant
- X-linked recessive
- X-linked dominant
- Multifactorial
Q22. The enzyme deficiency in
patients with Pompe disease is:
- Pyruvate dehydrogenase
- Glucose-6-phosphate translocase
- Liver phosphorylase
- Glycogen synthetase
- Acid maltase
Q23. The preferred diagnostic study
in patients with Pompe disease is:
- Renal biopsy
- Muscle biopsy
- Serum CK level
- Acid maltase levels in WBCs
- Serum acid maltase level
Q24. An infant is born
with erythroblatosis fetalis. The infant may have the following
finding:
- High insulin levels in serum
- Low insulin levels in serum
- High glucagon levels in serum
- Hyperglycemia
- High TSH levels in serum
Q25. Beckwith-Wiedemann
syndrome has all of the following features except:
- Exomphalos
- Gigantism
- Visceromegaly
- Lateral earlobe fissure
- Macrocephaly
Q26. The patients with
Beckwith-Wiedemann syndrome may develop all of the following tumors
except:
- Retinoblastoma
- Wilms tumor
- Adrenal carcinoma
- Hepatoblastoma
- Rhabdomyosarcoma
Q27. Beckwith-Wiedemann syndrome
is due to the mutation in the following chromosome:
- Chromosome 7
- Chromosome 11
- Chromosome 13
- Chromosome 15
- Chromosome 17
Q28. A full term male infant appears
jaundice during the first 24 hours of life due to AO incompatibility and
Coombs positive results. His serum bilirubin level is 35 mg/dL. A
double-volume exchange transfusion is performed. The most likely morbidity
is:
- Seizures
- Spastic diplegia
- Hydrocephalus
- Spastic quadriplegia
- Choreoathetotic cerebral palsy
Match the following
perinatal and neonatal illnesses and morbidities (29-30):
Q29.
Sensorineural hearing loss
Q30. Blindness
- Intraventricular hemorrhage
- Periventricular leukomalacia
- Gentamicin
- Birth trauma
- Retinopathy of prematurity
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