GENESIS

(Post Graduation Medical orientation Centre)

Exam : Genetics_Class_Test_Residency_2021
Class/Chapter :
Total Mark : 40 Time : 2100 Min
Date : 2021-01-02

1. In which of the following cases barr body will be seen? 2. In karyotyping

a). a) Female a). a) Examine the chromosome is to arrest dividing cells in
b). b) Male metaphase with colchicines
c). c) Klinefelter syndrome b). b) The most commonly used staining is giemsa stain
d). d) Turner syndrome chromosome profile
e). e) Super female c). c) Karyotye in the presentation of a cellular chromosome profile
TFTFT d). d) A karyotype is obtained by arranging sex chromosome in
length then autosome
e). e) Identification of chromosome on the basis of alternating light
and dark band
TTTFT

3. Genetic examination / Karyotyping can be done: 4. In human cytogenetic

a). a) Recurrent abortion a). a) The Y chromosome is acrocentric
b). b) premature labour b). b) Trisomy 16 is the commonest trisomy
c). c) Consanguity c). c) Trisomy 1 is present in almost 10% of first trimester
d). d) Pregnancy after 35 years spontaneous abortions
e). e) Polyhydramnios d). d) A cause of trisomy is non disjunction at meiosis
TFFTF e). e) Pentasomy of sex chromosome is incompatible with life
TTFTT

5. Single gene defect 6. Mitochondrial inherited disorder

a). a) Haemophilia – A a). a) MELAS syndrome
b). b) Gout b). b) Pearson syndrome
c). c) Cystic fibrosis c). c) Laber’s hereditary optic neuropathy
d). d) α1 antitrypsin deficiency d). d) MERRF syndrome
e). e) Diabetes mallitus e). e) NARP syndrome
TFTTF TTTTT

7. A Mutation is 8. Autosomal dominant disorders characterized by

a). a) Temporary change in the DNA a). a) Both mother and father are always affected
b). b) Production of mRNA b). b) May be skipped
c). c) Synthesis of new DNA c). c) 25% childs are affected
d). d) Permanent change in the DNA d). d) Risk high during 1st pregnancy
e). e) Protein mal-synthesis e). e) Reduced expression
FFFTF FFFFT

9. Single gene disorders with non-classic inheritance are-- 10. Multifactorial inheritance disorders are as
a). a) Fragile X syndrome a). a) Congenital dislocation of the hip
b). b) Myotonic dystrophy b). b) Gout
c). c) Familial hypercholesterolaemia c). c) Pyloric stenosis
d). d) Haemophilia A d). d) Talipes
e). e) Prader-willi syndrome e). e) Hypertension
TTFFT TTTTT

11. Following are the autosomal dominant disorders 12. Examples of autosomal recessive conditions are
a). a) myotonic dystrophy a). a) Familial Mediterranean Fever
b). b) tuberous sclerosis b). b) Kartagener’s syndrome
c). c) multiple sclerosis c). c) Charcot-Marie-Tooth disease
d). d) Friedreich’s ataxia d). d) α1- antitrypsin deficiency
e). e) Duchenne muscular dystrophy e). e) Primary agammaglobulinaemia
TTFFF TTFTF

13. Autosomal recessive disorders- 14. Disorders associated with enzyme defects are
a). a) Siblings have one chance in two of having the trait a). a) Phenylketonuria
b). b) Variable expressivity is common b). b) Familial hypercholesterolemia
c). c) As the age advances severity is increased c). c) Tay-Sachs disease
d). d) De novo mutation is rarely defected d). d) Vitamin D-resistant rickets
e). e) Incomplete peretrance is common e). e) Albinism
FFFTF TFTFT

15. Given a husband with haemophilia and his unaffected 16. X-linked recessive metabolic disorders are
wife a). a) Diabetes insipidus
a). a) None of their daughter will be affected b). b) Alkaptonuria
b). b) All of their daughters will carry the haemophilic gene c). c) Leshch-Nyhan syndrome
c). c) A daughter with Turner’s syndrome may also have haemophilia d). d) Haemophilia A
d). d) All of his sisters will be carriers
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e). e) His maternal grandfather could have had haemophilia e). e) Ehlers-Danlos syndrome
TTTTT TFTFF

17. Genes of the following mendelian disorders are located in 18. Chromosomal abnormalities are found in
chromosome 7 a). a) Turner’s syndrome
a). a) Cystic fibrosis b). b) Patau’s syndrome
b). b) Phenylketonuria c). c) Mullerian agenesis
c). c) Familial hypercholesterolemia d). d) Klinefelter’s syndrome
d). d) Osteogenesisimperfecta e). e) Imperforate hymen
e). e) Duchenne muscular dystrophy TTFTF
TFFTF
19. Down's syndrome may be associated with
a). a) Endocardial cushion anomaly
b). b) Bronchiectasis
c). c) Congenital duodenal atresia
d). d) Systemic hypertension
e). e) Hypothyroidism
TFTFT

20. Following interpretations are appropriate in case of triple 21. Following are the features of Klinefelter's syndrome
test done for Down syndrome screening a). a) Most common karyotype is 47 XXX
a). a) Increased serum α-fetoprotein b). b) Phenotype is male
b). b) decreased unconjugated oestriol c). c) Usually have short stature
c). c) Increased β-HCG d). d) All have- gynaecomastia
d). d) Increasedinhibin e). e) Usually are infertile, azospermia is universal
e). e) Increased serum PAPP-A FTFFT
FTTFF
22. Structural chromosomal abnormalities in tumour cells
are-
a). a) Monosomy
b). b) Balanced translocation
c). c) Mosaicism
d). d) Inversion
e). e) Gene amplification
FTFTF

23. Diseases caused by Misfolding of Proteins 24. Genetic prediction using DNA analysis is available for the
a). a) Cystic fibrosis following conditions--
b). b) Ranal failure a). a) Myotonic dystrophy
c). c) Alzhemier disease b). b) Spinal muscular atrophy
d). d) Tay-Sachs disease c). c) Insulin dependent diabetes mellitus
e). e) Sarcoidosis d). d) Fragile X syndrome
TFTTF e). e) Hemophilia A
TTFTT

25. DNA Amplification occurs: 26. Amniocentesis

a). a) PCR a). a) Can detect inborn error of metabolism in early pregnancy
b). b) Recombinant DNA & Cloning b). b) Neural tube defects can be diagnosed at about 14 -16 week
c). c) DNA microassay c). c) Sex linked disorder can’t be identified
d). d) Southern Blot d). d) It may leads to fetal lung hypoplasia
e). e) FISH e). e) It may cause abortion in about 5% of cases
TTFFF TTFTF

27. In anencephaly— 28. In Turner’s syndrome..

a). a) Alpha- fetoprotein level is low
b). b) Polyhydramnious is present
c). c) The cranial neuropore fails to close
d). d) Nuchal transluncency is increased
e). e) Maternal vit- B12 deficiency is present
FTTTT
a). a) Characteristic clrromosoma] structure is 45 XY
b). b) Secondary amenorrhea is usual
c). c) Coarctation of the aorta may occur
d). d) The ovaries are multicystic
e). e) Pubic hair is absent
FFTFF

29. The screening tests for fetal chromosomal anomalies are 30. The following statements are CORRECT regarding
a). a) Amniocentesis α1antitrypsin deficiency?
b). b) Chorionic villus sampling a). a) Inheritance pattern is autosomal recessive
c). c) Triple test b). b) Females are more affected than males.
d). d) Double test c). c) Caused by mutation in SARPINA1 gene
e). e) Nuchal translucency d). d) Causes early jaundice with unconjugated hyperbilirubinemia in
TTFFT neonates.
e). e) Causes pulmonary emphysema in adults.
TFTFT

31. Regarding Translocation 32. Properties of genetic code

a). a) Exchange of chromosomal segments between homologous a). a) Specific codes always codes for different amino acid.
chromosome. b). b) Genetic code in universal without any minor exceptions.
b). b) Always produce abnormal phenotype. c). e) Redundancy in Sometimes called degeneracy.

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c). c) Can lead to formation of unbalanced gametes
d). d) Balanced translocation is often clinically silent.
e). e) Oncogenes for CML in activated by translocation.
FFTTT
34. Metabolic disorders of AR disorders -
a). a) Phenylketonuria
b). b) Nephrogenic diabetes insipidus
c). c) Glucone-6-phosphate dehydrogenase deficiency.
d). d) Familial Hypercholesterolemia
e). e) Glycogen storage disease.
TFFFT
36. Features of Turner's syndrome excludes.
a). a) Phenotypically male
b). b) Low gonadotropin levels
c). e primary amenorrhea in always found in mosaicism variety
d). d) Slight intellectual defect.
e). e) Horseshoe kidneys usually function normally
TTTFF
38. Indications for Barr body count
a). a) Inguinal mass in male
b). b) Severe hypospadias
c). c) Infertility of male
d). d] Lymphoedema in male new born.
e). e) Stigmata of turner's syndrome
FTTFT
40. Examples of trinucleotide repeat expansion disease
a). a) Friedreich's ataxia
b). b) Duchenne’s muscular dystrophy
c). c) Fragile x syndrome
d). d) Myotonic dystrophy
e). e) Cystic fibrosis
TFTTF
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d). d) comma less and overlapping
e). e) It is read from a fixed starting point
FFTFT
33. Features of autosomal dominant disorders exclude
a). a) can exhibit anticipation
b). b) Structural type disorders
c). c) Risk reduces for successive pregnancies
d). d) Variable expressivity
e). e) unaffected individual can transmit the disease
FFTFT
35. Regarding Down Syndrome
a). a) 94% of cases are due to robertsonian translocation.
b). b) Antenatal screening tests have sensitivity >91% and
specificity >68%
c). C) PAPP-A is done in the second trimester
d). d) Non-disjunction during maternal meiosis
e). e) TG usually >50
FFFTF
37. True statement regarding karyotype
a). a) Noonan's syndrome : 45.XX
b). b) Patau’s Syndrome: 47XX+13
c). e) Edward's syndrome: 47,44+18
d). d) Testicular feminization syndrome: 46xx
e). e) Seminiferous tubule dysgenesis:47XXY
FTTFT
39. Point mutations occur in
a). a) Cystic fibrosis
b). b) Alpha 2 antitrypsin deficiency
c). c) Haemochromatosis
d). d) Hereditary motor and sensory neuropathy type- 1
e). e) Achondroplasia
FTTFT
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