Block 15 Genetic Pathology

19 Questions | By Chachelly | Updated: Mar 22, 2022 | Attempts: 1287

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1.

Chromosomes involved in Robertsonian translocations?
- A.
  
  Ring
- B.
  
  Holocentric
- C.
  
  Submetacentric
- D.
  
  Acrocentric
- E.
  
  Metacentric
2.

47XY, +21 karyotype represents … (more than one correct answer possible)
- A.
  
  Haploid set
- B.
  
  Euploid set
- C.
  
  Diploid set
- D.
  
  Aneuploid set
- E.
  
  Isochromosome
- F.
  
  Trisomy
3.

Two daughter cells after anaphase lag are … (more than one correct answer possible)
- A.
  
  Both euploid
- B.
  
  Both aneuploid
- C.
  
  One euploid, another aneuploid
- D.
  
  One euploid and another monosomic
- E.
  
  One euploid and another trisomic
- F.
  
  One monosomic and another trisomic
4.

Medical significance of balanced translocations? (More than one correct answer possible)
- A.
  
  Not significant
- B.
  
  May cause neoplastic growth
- C.
  
  May cause partial aneuploidy in offspring
- D.
  
  Incompatible with life
- E.
  
  May cause infertility
- F.
  
  May cause mental retardation
5.

The most common chromosomal aberration responsible for fetal death? (more than one correct answer possible)
- A.
  
  45X
- B.
  
  47XX, +21
- C.
  
  47XY, +18
- D.
  
  47XY, +16
- E.
  
  47XX, +13
- F.
  
  45X/46XY
- G.
  
  49XXXXY
6.

Genetic disorders … (More than one correct answer possible)
- A.
  
  Are always inherited from parents
- B.
  
  Are always inborn
- C.
  
  Are always manifested at birth
- D.
  
  May delay with manifestations till late adulthood
- E.
  
  May result from spontaneous mutations in gametes
- F.
  
  May result from spontaneous mutations in embryonic somatic cells
7.

The most common prenatal diagnostic sign in Down syndrome?
- A.
  
  Palmar crease
- B.
  
  Epicanthic fold
- C.
  
  Upslanting eyes
- D.
  
  Increased nuchal translucency
- E.
  
  Abnormal serum PAPP-A
- F.
  
  Abnormal serum beta-hCG
- G.
  
  Abnormal serum AFP
- H.
  
  Abnormal serum estradiol
- I.
  
  Abnormal serum inhibin A
8.

The major cause of infertility in Turner syndrome …
- A.
  
  A. Polycystic ovaries
- B.
  
  B. Uterine malformation
- C.
  
  C. Loss of sexual desire
- D.
  
  D. Early loss of oocytes (before puberty)
- E.
  
  E. Blockage of fallopian tubes
- F.
  
  F. Absence of internal genitalia
9.

What is true about sexual life of patients with Klinefelter syndrome? (more than one correct answers)
- A.
  
  A. No sexual desire
- B.
  
  B. Cannot ejaculate
- C.
  
  C. Vasa deferentia are blocked
- D.
  
  D. Azoospermia
- E.
  
  E. Testicles are atrophied
- F.
  
  F. Very low testosterone level
10.

Conditions involved in development of azoospermia in Klinefelter syndrome? (more than one correct answers)
- A.
  
  A. Low-to-zero testosterone level
- B.
  
  B. Low FSH and LH level
- C.
  
  C. Low 5-alpha-reductase activity
- D.
  
  D. Low AR response to testosterone
- E.
  
  E. Low AR response to dihydrotestosterone
- F.
  
  F. Extended CAG repeats in AR gene
11.

The shown pathology is characteristic for … (more than one correct answer)
- A.
  
  A. Angelman syndrome
- B.
  
  B. Prader-Willi syndrome
- C.
  
  C. DiGeorge syndrome
- D.
  
  D. Hurler disease
- E.
  
  E. Hunter disease
- F.
  
  F. Velocardiofacial syndrome
- G.
  
  G. Fragile X chromosome
12.

Major causes of death of patients with Marfan syndrome? (more than one correct answers)
- A.
  
  A. Bone weakness and repetitive fractures
- B.
  
  B. Poor wound healing and secondary infection
- C.
  
  C. Dissecting aortic aneurysm and its rupture
- D.
  
  D. Mitral valve prolapse and heart failure
- E.
  
  E. Reduced vision with multiple falls and head trauma
13.

What is true about life span in Gaucher disease?
- A.
  
  A. Shorter due to multiple bone fractures and associated pathology
- B.
  
  B. Shorter due to bone marrow atrophy
- C.
  
  C. Shorter due to liver failure
- D.
  
  D. Shorter due to splenic rupture
- E.
  
  E. Not affected
14.

Cataract in infancy is associated with …
- A.
  
  A. Phenylketonuria
- B.
  
  B. Galactosemia
- C.
  
  C. Cystic fibrosis
- D.
  
  D. Hemolytic disease of the newborn
- E.
  
  E. Gaucher disease
- F.
  
  F. Hurler disease
15.

Salty sweat in patients with CF is associated with … (more than one correct answer)
- A.
  
  CFTR mutation
- B.
  
  ENaC mutation
- C.
  
  Inhibition of ENaC
- D.
  
  Activation of ENaC
- E.
  
  Inhibition of bicarbonate transport
- F.
  
  Activation of bicarbonate transport
16.

The shown electron microphotograph is characteristic for :
- A.
  
  Marfan syndrome
- B.
  
  Ehlers- Danlos syndrome
- C.
  
  Gaucher disease
- D.
  
  Tay-Sachs disease
- E.
  
  Hurler disease
- F.
  
  Hunter disease
17.

Muscle hypotonia and cardiomegaly in infancy are associated with …
- A.
  
  Serum accumulation of amino acids
- B.
  
  Lysosomal accumulation glycosaminoglycans
- C.
  
  Lysosomal accumulation of glycogen
- D.
  
  Cytosolic accumulation of glycogen
- E.
  
  Lysosomal accumulation of lipids
18.

Prader-Willi syndrome develops when … (more than one correct answer)
- A.
  
  PW gene is imprinted on maternal chromosome
- B.
  
  PW gene is imprinted on paternal chromosome
- C.
  
  PW gene on paternal chromosome is lost
- D.
  
  Both 15th chromosomes are maternal
- E.
  
  Both 15th chromosomes are paternal
19.

A genetic disease, which is NOT associated with mental retardation …
- A.
  
  Angelman syndrome
- B.
  
  Fragile-X syndrome
- C.
  
  Galactosemia
- D.
  
  Gaucher disease
- E.
  
  Klinefelter syndrome
- F.
  
  Phenylketonuria
- G.
  
  Prader-Willi syndrome
- H.
  
  Tay Sachs disease
- I.
  
  Velocardiofacial syndrome