RxPG - MRCPath Part 1; Clinical Cytogenetics; Tuesday 18 March 2003

CLINICAL CYTOGENETICS

First Paper

Candidates must answer FOUR questions ONLY

Time allowed - THREE HOURS

1. Indicate how Clinical Cytogenetics (including Molecular Cytogenetics) has been used as a key technique to identify disease gene loci, illustrating your answer with relevant clinical examples.

2. Write an essay on chromosome instability (“breakage”) syndromes.

3. Describe the phenomenon of “X inactivation”. How do you account for the fact that females with a 45,X karyotype have a clinical phenotype?

4. Describe the aetiology of Uniparental Disomy, and give examples of its role in human genetic disease.

5. EITHER
A recent textbook about Human Chromosomes includes the statement “Given the frequencies of nondisjunction and chromosome loss throughout life, we are all mosaics to some degree”. Discuss the cytogenetic evidence for and against this statement.

OR
Write short notes on the mechanisms and cytogenetic applications of any three of the following:
(a) Whole Chromosome FISH (“Chromosome Painting”)
(b) Replication Banding
(c) C-Banding
(d) Comparative Genomic Hybridisation

THE ROYAL COLLEGE OF PATHOLOGISTS

Part 1 Examination

Tuesday 18 March 2003

CLINICAL CYTOGENETICS

Second Paper

Candidates must answer FOUR questions ONLY

Time allowed - THREE HOURS

1. In laboratory diagnostic genetics, relate the roles of internal quality control, external quality assessment and accreditation by external agencies.

2. Discuss which diagnostic techniques could be improved or introduced by automation in a Clinical Cytogenetics Laboratory. What advantages and disadvantages does automation provide?

3. How would you evaluate the clinical effectiveness of different approaches to prenatal cytogenetic diagnosis?

4. Write an essay on the prognostic value of acquired structural cytogenetic abnormalities in acute leukaemias and solid tumours.

5. Discuss the relative advantages and disadvantages of (i) G-band analysis, (ii) M-FISH or SKY, and (iii) FISH with a set of sub-telomeric probes, as alternative methods to investigate couples with recurrent miscarriage or infertility.