Sunday, 13 December 2015

Experienced Genetics Objective Type Questions And Answers

46- The incidence of Down syndrome in children born to women aged less than 30 years is
1) 1:600
2) 1:800
3) 1: 1000
4) 1:1200
5) 1:1400
Maternal age also affects incidence of hydrocephalus, anencephaly and achondroplasia.

47- A routine ultrasound at 18 weeks gestation in a diabetic mother reveals a male foetus with an endocardial cushion defect. Other abnormalities include increased nuchal thickening and a "double bubble" sign. Which of the following conditions is most likely to have contributed to this set of findings:
1) Maternal use of ACE inhibitor
2) Marfan syndrome
3) Maternal folate deficiency
4) Trisomy 21
5) Congenital syphilis

48- A 40 year old male is diagnosed with Dystrophia myotonica. Which one of the following features would be expected in this patient?
1) Autosomal recessive inheritance
2) Cataracts
3) Fasiculations would predominate
4) Progressive external ophthalmoplegia
5) Preserved tendon reflexes despite muscle wasting

49- Which of the following is true regarding chromosomes?
1) Down's syndrome is most commonly due to an extra copy of chromosome 21 inherited from the father.
2) A Fetus with triploidy will have 47 chromosomes
3) Heterochromatin is mostly composed of active genes
4) The normal human karyotype consists of 22 pairs of autosomes
5) Telomeres provide the point of attachment to the mitotic spindle

50- A 28-year-old lady presents with multiple café-au-lait spots. A diagnosis of neurofibromatosis type 1 is made. What is true of the NF1 gene?
1 ) Inherited in a recessive fashion
2 ) Inherited in an X-linked fashion
3 ) On chromosome 17
4 ) On mitochondrial genome
5 ) Related to NF2 gene

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