01.

these refers the different versions of a gene that occupy the same locus
and dictate traits that are either dominant or recessive ?
A.Genes
B. Chromosomes
C.[Alleles ]
D.Genotypes
02. The following are characteristics of autosomal dominant inheritance
except?
A. Transmission is vertical,appearing in multiple generation
[B. Affected parents have a 25 % chance of passing on the abnormal gene to
their offspring]
C. Family members who don’t have the abnormal gene are unaffected and do
not pass on the disorder
D. Males and females are equally affected
E. All of the above
03. Characteristic of autosomal dominant inheritance which refers to the
expression of the mutant gene in individuals.
A. Expressivity
[B. Penetrance]
C. Pleiotropy
D. None of the above.
04. Happens when a single mutant gene produces diverse phenotypic effects
(depending on which organ is affected)
A. Penetrance
B. Expressivity
[C. Pleiotropy]
D. AOTA
E. NOTA
05. Characteristics of Autosomal Recessive Inheritance, except:
A. Horizontal transmission where multiple affected individuals are seen in the
same generation but not in other generations
[B. 50% of recurrence risk for parents with previously affected child]
C. Equal chance for males and females to be affected
D. Increased probability of consanguity, especially for rare traits
06.The following are examples of autosomal recessive, except:
A. Classic PKU
B. MSUD
C. Galactosemia
[D. Ehlers-Danlos Syndrome]
07. Which of the following is/are true about X-linked recessive inheritance?
A. mutation is expressed phenotypically in all males who receive it because
males have only 1x chromosomes.
B. heterozygous females are usually unaffected but some may express the
condition with variable severity.
[C. A AND B]
D. NOTA
08. Fragile X syndrome the most common inherited form of cognitive
impairment is due to the mutation in the FMR1 gene on which chromosome
A. Chromosome 19q.13
B. Chromosome 13q.19
C. [Chromosome Xq27.3]
D. Chromosome Xq23.7

09. A classic example of genomic imprinting wherein there is microdeletion of

chromosome 15q11-13 is paternal in origin

[A. Prader willi syndrome]

B. Angelman syndrome
C. Silver russel syndrome
D. Beckwith-Wiedemann syndrome
10. True regarding multifactorial inheritance
A. Mutation results from complex interactions interactions between a number
of genetic and environmental factors
B. Usually aggregate with families due to presence of genotypes that
predispose to certain conditions
C. Multiple genes are affected and there is no simple mendelian pattern of
inheritance
[D. AOTA]
E. NOTA
11. This chromosomal abnormality is characterized by the classic dimorphism:
holoprosencephaly, hypotelorism, cleft lip and/or palate, cardiac defects,
omphalocoele, polydactyly, and cutis aplasia.
A. Trisomy 21 or Down syndrome
B. Trisomy 18 or Edward syndrome
[C. Trisomy 13 or Patau syndrome]
D. Turner syndrome
12. Most common found abnormalities in spontaneous abortions in 60-80%
cases which is caused by absence of paternally derived sex chromosome.
A. Trisomy 21 / Down Syndrome
[B. Turner Syndrome]
C. Trisomy 13/ Patau Syndrome
D. Trisomy 18/ Edwards Syndrome
E. NOTA
13. Study of individual genes and its structures and it aims to unravel the
molecular basis of mutations to diagnose and treat genetic disease.

[A.Molecular Cytogenetics]
B. Biological Cytogenetics
C. Clinical Cytogenetics
D. FISH
14.which of the the following study of chromosomes, their structure,
morphology, organizations, and inheritance as applied to medical genetics?
A. Fluorescence in Situ Hybridization
B. Molecular cytogenetics
(C. Clinical cytogenetics)
D. Biological cytogenetics
15. Which of the following is not true about mitochondrial inheritance?
A. They run in the families because they reoccur in relatives of affected
individuals
B. The mutation result from coupers interaction between a number of genetic
and environmental factor
C. They usually aggregate with families due to presence of genotypes
[D. Multiple genes are affected and there is a simple mendelian pattern of
inheritance]
16.the general metabolic concept,the disorder pathophysiology and the basic
of most inborn error
A.[causing accumulation of substance]
B.resulting from deficiencient products
C. Involving energy generation
D.resulting from a disturbance of molecules
E. resulting from a disturbance of substance
17. The following features shared among most of the genetic metabolic
disorders, EXCEPT:
A. The affected child is born normal and becomes symptomatic later on in life
B. Nature of the mutation that causes the dysfunction of the gene usually
varies from family to family
C. The earlier the appearance of symptoms the worse the prognosis
[D. The majority of the conditions are inherited as x-linked recessive]
18. Which among the following odors is appropriately paired to its disorder
A. Musty - MSUD
B. Sweaty feet - PKU
[C. Sweaty feet - Isovaleric acidemia]
D. Rotten fish - Dawsin
19. Classic galactosemia is an autosomal recessive disorder caused by the
deficiency of what enzyme?
A. [galactose-1- phosphate uridyltransferase]
B. galactokinase
C. UDP galactose-4-epimerase
D. NOTA
20. Patients with galactosemia are at an increased risk of infectious
septicemia due to
[A. E. coli]
B. Grp. B streptococcus
C. Haemophilus influenzae
D. Listeria monocytogenes
21. The clinical manifestations of glycogen storage disease are
[A. Hepatomegaly, fasting hypoglycemia, lactic acidosis]
B. Hepatomegaly, fasting hypoglycemia, jaundice
C. Hepatomegaly, lactic acidosis, developmental delay
D. Hepatomegaly, jaundice, lactic acidosis

22. The key principle in the treatment of glycogen storage disease is

A. Hydration
B. Diet modification
[C. Prevention of hypoglycemia]
D. Dialysis
23. What is the clinical manifestation of G6PD deficiency?
A. Hyperglycemia
B. Failure to thrive
[C. Hemolytic Anemia]
D. Metabolic acidosis
24. Patients with maple syrup urine disorder are unable to breakdown
essential amino acids; except:
A.leucine
B.isoleucine
[C.isovaline]
D.failure to thrive
25. CASE: Mentally retarded, stunted, blond, blue eyed, light skinned, musty
smelling.

[A. PKU]
B. MSUD
C. Isovaleric acidemia
D. Hawksinuria
26. Fatty acid oxidation disorder manifested by weakness and muscle pain
with myoglobinuria after strenous exercise:
A. Medium Chain Acyl Coa Dehydrogenase deficiency(MCADD)
B. Carnithine Transporter Deficiency
[C. Carbithine Palmitoyl Transferase 2 deficiency]
D. Zellweger syndrome
27. A mother brought her child to the hospital for self mutilation since the child’
s teeth erupted. What is the likely condition?
A. Glycogen storage disorder
B. Lysosomal storage disorder
C. [Purine metabolism disorder]
D. Pyrimidine metabolism disorder

28. A 6months old baby brought to the hospital for further evaluation. He
presents with the following features: scaphocephalic, frontal bossing,
hypertelorism,depressed nasal bridge, wide nostrils larhe tounge, and thicked
lips. He was then diagnosed with Hurler Syndrome. What is the main
characteristic difference between Hurler and Hunter Syndrome?
A. Hepatosplenimegaly
[B.Corneal Clouding]
C.Dysostosi Multiplex
D. Gibbus formation
29. All Mucopolysaccharidoses follow autosomal recessive mode of
inheritance except for?
[A. Hunter syndrome]
B. Sanfillipo syndrome
C.Morquio syndrome
D. Hurler syndrome
30. Most common fatty acid oxidation disorder
[A. Medium chain acyl CoA dehydrogenase]
B. Carnitine transporter defect
C. Carnitine palmitoyl-transferase
D. None of the above
31. A Full term baby was born C.S (Caesarean section) secondary to abruptio
placenta. At birth baby was limp , apneic , bradycardic , cyanotic . The initial
steps of resuscitation includes the following ? - hussain

A. Drying
[B. Bag valve mask ventilation ]
C. Providing heat
D. Suctioning
E. All of the above
32. At 5th hour of life the baby was noted to have blank stare and twitching of
extremities. What is your likely diagnosis?
A. Sepsis
B. Pneumonia
C. Intra cranial bleeding
[D. Hypoxic ischemic encephalopathy]
E. None of the above
33. What are the Differential Diagnosis for the above case?
A. Pneumonia
B. Meningitis
C. RDS
D. Intracranial Haemorrhage
E. [B&D]
34. Which diagnostic taste is best for above case?
A.ct scan
B.MRI
C.cranial ultrasound
D.sorry I forgot
35. 18 days old boy brought to you for jaundice. A term child. SGA wt. 2kg. He
has Cutaneous lesion like blueberry muffin. What's your diagnosis?
A.Sepsis
B.Congenital syphilis
[C.Congenital rubella]
D.CMV infection
E.NOTA
36. What Diagnostic test would you do?

[A. TORCH titers]

B. Cranial CT Scan
C. Hearing Test
D. 2D Echocardiogram
E. AOTA
37. Bilirubin levels done on the baby showed direct bilirubin fraction to be
elevated. Management of the baby include the ff. EXCEPT
A. Phenobarbital
B. Ursodeoxycholic acid
[C. Phototherapy]
D. AOTA
E. NOTA
38. A preterm infant , wt. of 1.2 kg, receiving preterm milk, on the 2nd week of
life develop abdominal distention, upper GI bleed, vomiting and bloody stools.
What is your likely diagnosis?
A. Acute gastroenteritis
[B. Necrotizing enterocolitis]
C. Cow's milk allergy
D. Hemorrhagic disease of the newborn
E. None of the above
39. Management in no. 38.
A. Hold feeding
B. Antibiotic
C. Fluid resuscitation
D. Gastric decompression
[E. AOTA]
40. A preterm baby on the 9th day of life was noted to have poor activity ,
siezure and bulging fontanels what is/are your likely diagnosis
A. Meningitis
B. Epilepsy
C.intracranial bleed
D. Pneumonia
[E. A and C ]
41. What test will you do?
A. CSF analysis
[B. Cranial ultrasound]
C. CT Scan
D. Blood culture
E. All of the above
42. A preterm 30 weeks AOG baby developed respiratory distress soon after
birth. The mother has history of PROM of more than 24 hours. Probable
diagnosis is/are?
A. Tetralogy of fallot
B. RDS type 1
C. PDA
D. Pneumonia
[E. B and D]
43. What diagnostic test will you do?
[A. Chest X-Ray]
B. ABG
C. Blood culture
D. CBC
E. AOTA
44. Chest X-ray done revealed diffuse ground glass appearance. What is your
diagnosis?
A. PDA
[B. RDS Type 1]
C. RDS Type 2
D. Pneumonia
E. NOTA
45. Management of the above case includes the ff:
A. O2 inhalation
B. Surfactant
C. CPAP
D. Antibiotics
E. Aota
46. Respiratory problem associated with preterm infants except
A.RSD
B BPD
C congenital Pneumonia.
D periodic breathing.
E(( pulmonary Hemorrhage))

47. The following metabolic symptoms are associated with preterm except
A)Hypoglycemia
B)Hypocalcemia
C)(Hyperglycemia)
49. Leukokoria suggests the ff:
A. Congenital cataract
B. Chorioretinitis
C. Tumor
D. Retinopathy of prematurity
[E. AOTA]
50. Possible complication of hypothermia include the following(s)?
A. Metabolic acidosis
B. Hypoglycemia
C. Increase excretion of water & fluid
D. Hypoxemia
[E. AOTA]

51. Factor that contribute to adverse neurodevelopmental outcome.SET-A

A. Grade III-IV intraventricular hemorrhage
B. Periventricular leucomalacia
C. BPD
[D. Postnatal steroid therapy]
E. AOTA
52. Megalencephaly caused by;
A. Hydrocephalus
B. Storage disease
C. Achondroplasia
D. Familial
[E. All of the above]
53. The management of apnea of prematurity is.
(A.CPAP)
B.Tactile stimulation
C.O2 supply
D.Methylxanthines.
E.All of the above.
54. Antibiotics of choice early onset of sepsis ?
A. Ceftazidime
B. Ampicillin
C. Co - trimoxazole
D. Aminoglycogen
(E. B&D )
55. Management of bronchopulmonary dysplasia include/s
A. Diuretics
B. Beta 2 agonists
C. Nutrition
D. Steroid
[ E. All of the above]
56. Most common cause/s of early onset sepsis
A. Group B Strepcoccus
B. Pseudomonas
C. E. coli
D. Enterobacter
[E. A&C]
57. The most common site/s of bleeding in preterm infants?
A. Periventricular
B. Subarachnoid
[C. Intraventricular]

58. The following is/are Cause of Persistent Pulmonary Hypertension?

A. Sepsis
B. Asphyxia
C. Meconium aspiration
[D. AOTA]
E. NOTA
59. Cause of hydrocephalus except
A. Aqueductal stenosis
B. Congenital taxoplasmosis
C. Arnold Chiari malformation
D. Intraventricular hemorrhage
[E. Zika virus infection] [1]
60. The following complications may arise from RDS type 1.
[A. Bronchopulmonary dysplasia ]
B. Retinopathy of prematurity
C. Patent ductus arteriosus
D. Cerebral palsy
E. All of the above
61. Which of the following is not the content of a motor unit?
A. Anterior horn cell
[B. Dorsal root ganglion]
C. Peripheral nerves
D. Neuromuscular junction
E. Muscle fibers

62. Which of the following are components of a motor unit, EXCEPT:

A. Anterior horn cell
[B. Dorsal root ganglion]
C. Peripheral nerve
D. Neuromuscular junction
E. Muscle fiber
63. Component of central nervous system except
A. Cerebral hemispheres
B. Brainstem
[C. Cerebellum]
D. Midbrain
E. Spinal Cord

64. Congenital injury to brain may result from:

A. Asphyxia
B. Hypoxia
C. Mechanical trauma as the head passes through birth canal
[D. AOTA]
E. A and C
65. The Most common cause of head trauma in childhood in industrialized
nations are:
A. Shaken baby syndrome
B. Falls
C. Sports related injuries
D. Transportation related injuries
E. [B and D]
66.The characteristic MRI feature of posterior white matter hyperintensity is
seen in
[A.x-leukoenceohalopathy]
B.Multiple sclerosis
C.Encephalitis
D.primary brain tumor
D.Tuberous sclerosis complex
67. True of childhood Primary Brain tumor EXCEPT
[A. Majority located supratentorially ]
B. Majority located infratentorially
C. Majority located in the midline
D. Malignant histological
E. None
68. The most common childhood malignancy that has the propensity to
metastasize into the cerebral cortex
A. PNET
B. Medulloblastoma
C. Astrocytoma
D. Neuroblastoma
[E. Leukemia]

69. A malignant tumor showing high contrast in neuroimaging indicates?

a. Malignancy
b. Calcification
c. Active Bleeding
[d. Highly Vascular]
e. Invasion
70. The gold standard used in the diagnosis of vascular malformation like
AVM
A. CT scan
B. MRI
C. PET scan
D. Conventional angiography
[E. CT angiography]
71. Dawson Fingers is a Characteristic Radiologic Finding of which disease?
A. Adrenleukodystrophy
B. Meningoencephalitis
C. Wilson Disease
[D. Multiple Sclerosis]
E. Tuberous sclerosis Complex
72. Most common clinical presentation of myasthenia gravis in child
[a. Weakness]
b. Blurred visson
c. Difficulty of breathing
d. Chest pain discomfort
e. Ptosis
73. The ff is manifestation of vitamin B deficiency in child
[A. Seizure]
B. Weakness
C. ..
D. ..tingling and numbness
E. Dermatoses
74. most severe form of deprivation disorder
A. Behavioral retardation
B. Mental retardation
C. Anaclitic depression
D. Major depression
[HOSPITALISM] -source: Dr. Solis, Noninfectious Diseases of the Nervous
System, slide 20
76. The most common heritable cause of intellectual disability among boys is:
A. Down syndrome
B. William syndrome
C. XYY syndrome
D. Prader Willi Syndrome
[E. Fragile X syndrome]
77. The sole neurologic manifestation of rheumatic fever is:
A.Seizure
B. Behavioral Changes
[C.Chorea]
D.Altered Level of Sensorium
E.Tics
78. Classic phenotype of Phenylketonuria
A. Brittle hair, blindness
B. Mental retardation and prominent jaw
C. Low set ears and microcephaly
[D. Blond hair and blue eyes]
E. Small stature and autistic-like behavior
79. Most common nutritional cause of neural tube defects?
[A. Maternal folate deficiency]
B. Folate and taurine deficiency
C. Folate and iodine deficiency
D. Infant folate deficiency
E. Both maternal and infant folate deficiency
80. Most severe form of mental retardation secondary to iodine deficiency?
A. Congenital hypothyroidism.
B. Grave disease
[C. Cretinism]
D. Endemic goiter
E. Autoimmune thyroiditis
81. Features of fetal alcohol syndrome include/s:
A. Craniofacial defects
B. Limb defects
C. Cardiovascular defects
D. Mental retardation and developmental delay
[E. All of the above]
82. Minamata disease is a sever encephalopathy caused by ingestion of:
A. Arsenic
[B. Mercury]
C. Manganese
D. Iron
83. Refers to the 16-cell-stage of embryonal development.

A. Neural
B. Blastula
C. Gastrula
[D. Morula]
E. Blastocele
85. Embryonal single layer and appearance at central cavity?
A. Neurula
B. Molura
C. Blastula
D. Gastrula
(E. Blastocoele) ans
86. The embryonal cell stage with the appearance of three primitive germ
layers is called?
A. Morula
B. Blastula
C . [Gastrula]
D. Blastocele
87. The genesis of the nervous system is at which embryonic cell stage?
a. Neurula
b. Blastula
[c. Gastrula]
d. Morula
e.Blastocoele

88. Precursor of central nervous system is

A.neural tube
[B.neural plate]
C.neural fold
D.neural groove

90. diencephalon will finally differentiate into vesicles by?

a. cerebral hemisphere
b. midbrain
c. medulla oblongata
(d. thalamic structure)
e. pons
91. Brainstem differentiate to what vesicles?
A. Mesencephalon
B. Mesencephalon, metencephalon
C.[ Mesencephalon,metencephalon, myelencephalon]
D. Metencephalon, Myelencephalon
E. Rhombencephalon
92. The ff neurological manifestations are cerebral in origin except
[A. Weakness]
B. Seizures
C. Behavioral changes
D. Developmental delays
E. Language impairment
93. Most common neurocutaneous syndrome associated with autism?
[a. Neurofibromatosis]
b. Sturge- Weber syndrome
c. Hypomelanosis of Ito
d. Ataxia Telangiectasia
e. Tuberous Sclerosis Complex
94. In the pronator test, the upper extremity that is pathologic is
A. Unable to pronate
B. Unable to supinate
C. Able to pronate
D. Able to supinate
E. NOTA
95. Characteristic neurological manifestation of cerebellar dysfunction
A. Weakness
B. Hemiplegia
C. Resting tremor
[D. Intention tremor]
E. Tic
96. Primitive reflex except
[A. Parachute reflex]
B. Moro reflex
C. Palmar reflex
D. Fencer reflex
E. Buttress reflex
97. RA 11036 is also known as
A. Right for child protection
B. [Closing the GAP]

98. Anxiety becomes Disorder which of the following criteria needed?

A. Marked by severity of the symptoms.
B. There is relative dysfunction because of the severity of the symptoms.
C. There is suffering experienced by child.
D. [All of the above]
E. None of the above
100. Which of the following is the major risk factor to develop bipolar disorder
later in life?
A. Separating anxiety with school phobia
B. Disruptive behavior with conductive disorder
C. Posttraumatic stress disorder
[D. Mood disorder with depression]
E. Attention deficit hyperactivity disorder
[1] Responder updated this value.