Question

What are the appropriate molecular cytogenetic approaches that should be used to diagnose the following cases? Why?

Please explain.

1. Phenotypically abnormal child with balanced 46,XX,t(7;8)(q12;p22) karyotype.
2. A cancer case with a complex translocation that detected by karyotyping, but origins of involved chromosomes was not identified.
3. A balanced translocation carrier woman with recurrent abortions planning a new pregnancy.
4. Bronchial lavage material taken on suspicion of lung cancer
5. A case suspected of having terminal deletion in the short arm of chromosome 5

Answer 1

Answer: Karyotyping is the technique which can be used to detect any abnormalities like deletion, translocation.

Karyotype is the photographic representation of chromosome. By looking any individual karyotype we can easily detect the chromosome number, deletion,duplication and translocation.

1. Cancer due to translocation can easily detected by looking individual  karyotype. as we can easily locate the translocated fragment by comparing with the normal human karyotype.

2. new karyotype technique with different chromosome colour can easily detect the balanced translocation in individual by comparing with the normal karyotype .

3. Suspected terminal deletion case can be detected by karyotyping as we get small size chromosome in the photograph.