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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
[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
[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?
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]
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