Multiple choice

A 5 year old boy with developmental delay is seen for evaluation. He has microcephaly, and his parents note that his birth weight was low. There is no known family history of similar problems. As routine karyotype is normal. His parents ask if there are additional cytogenetic tests that can be offered. What would be the suggestion to them?

  1. The chromosome study should be repeated in another laboratory.

  2. A normal karyotype rules out all detectable chromosomal abnormalities.

  3. The boy should have FISH analysis for all known microdeletions.

  4. Analysis for subtelomere deletion may detect an abnormality missed by convential chromosomal analysis.
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

Subtelomere analysis does offer a possibility to detect an abnormality that was not seen by conventional cytogenetic analysis.

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