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Genetics Test (Part 1)

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1) Autosomal dominant conditions

2) During pre-implantation genetic diagnosis, allele drop-out can result in

3) A 33 year old woman attends the antenatal clinic at 10 weeks gestation. She is a carrier of cystic fibrosis and her partner is also a carrier of cystic fibrosis.

4) With respect to the structure of DNA, which base pairing is correct?

5) Monozygotic twins

6) Karyotyping

7) Fluorescent in-situ hybridization

8) Congenital adrenal hyperplasia

9)

A 23 year old woman has undergone chorionic villus sampling at 13 weeks gestation following a ‘high risk’ result from the
combined test. She should be informed that the results will be available

10) Circumstances in which females can be affected by X-linked recessive conditions include

11) For karyotype to be undertaken from peripheral blood

12) X-linked recessive conditions

13) Which cells are not used for pre-implantation genetic diagnosis?

14) Fluorescent in-situ hybridization

15) Pre-implantation genetic diagnosis

16) Myotonic dystrophy

17) Chromosome heteromorphism

18) Okazaki fragments

19) Fluorescent quantitative polymerase chain reaction (QF-PCR)

20) Succinylcholine sensitivity

21) Non-dysjunction

22)

A 23 year old woman has undergone amniocentesis at 16 weeks gestation following a ‘high risk’ result from the quadruple test. She
should be informed that the results will be available

23) Which disease is not an autosomal dominant condition?

24) With respect to the structure of chromosomes

25) Which one is not an autosomal recessive condition?

26) Cleavage stage embryo biopsy for pre-implantation genetic diagnosis

27) Which one is not an autosomal recessive disorder?

28) DNA replication

29) Which fetal tissue is not typically used for karyotyping?

30) Malignant hyperpyrexia

31) Alport syndrome is associated with

32) A 24 year old woman attends the antenatal clinic at 10 weeks gestation. She is known to have Von Willebrand’s disease.

33) Mucopolysaccharidosis

34) Quantitative fluorescent PCR (QF-PCR)

35)

A 23 year old woman has sickle cell disease. Her partner is a carrier of the condition. The chances of their baby having sickle cell disease
is

36) The false positive rate of fluorescent in-situ hybridization is

37) Which material / cells are used for fluorescent in-situ hybridization?

38) Pre-implantation genetic diagnosis

39) A 23 year old woman has sickle cell disease. Her partner is a carrier of the condition. The chances of their baby being normal is

40) The false positive rate of fluorescent in-situ hybridization is

41) Tracheo-oesophageal fistula

42) With respect to the structure of DNA

43) Down’s syndrome is associated with

44) The proportion of human pre-implantation embryos that show mosaicism is

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