As a medical geneticist, you are studying a syndrome that has multiple symptoms

Question

As a medical geneticist, you are studying a syndrome that has multiple symptoms including cardiac arrhythmia, hearing loss, farsightedness, mild cognitive impairment and webbed digits. All of your patients display all of the symptoms listed above. Using molecular genetic techniques, you discover that all but two of the patients have deletions on chromosome 17p11. The size of the deletions between the patients varies considerably from 565,000 nucleotides to 9,176,549 nucleotides. The two patients without deletions are discovered to have loss of function point mutations in a gene named AHVC2 on chromosome 17p11. The gene is partially or completely deleted in the other patients. Is this an example of a contiguous gene syndrome or segmental aneuploidy? Support your answer. (5)

Explanation / Answer

The given case scenario in the question is a case of contiguous gene syndrome. Contiguous gene syndrome is sign and symptoms caused by deletion or duplication of chromosome. Deletion or duplication removes several genes on that chromosome present in close proximity to each other. The symptoms appear when the patient is having diseases causing mutation of that genes involved in deletion. The segmental aneuploidy is subtype of contiguous gene syndrome, which is usually due to recombination of genes in the chromosome region. The contiguous gene syndrome mainly affect the male individuals. Example of contiguous gene syndrome involves DMD that is duchenne muscular dystrophy.

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