Combination of Cytogenetics, FISH, and Microarray Resolves a Subtle Famililial t(13;20) - April

2011

Warren Sanger
[email protected]
402-559-6328

Blood chromosome studies from a four year old male revealed material resembling satellites on the end of 20p. a microarray study detected a deletion of three clones at 20p13, but was not able to identify the satellite looking material. Using 20ptel and alpha satellite probes, FISH studies revealed an unbalanced translocation involving 20p and 13p or 21p. Blood studies from the biological parents revealed that the mother carried a balanced t(13;20). Cytogenetic and FISH studies were then performed on blood from the probands five siblings. Two had a der(20)t(13;20) causing a deletion of 20p and duplication of 13p and two had a der(13)t(13;20) resulting in a deletion of 13p and a duplication of 20p. One had a balanced t(13;20) and one was chromosomally normal. The subtle cytogenetic abnormality in this family demonstrates that often a combination of conventional cytogenetics, FISH, and microarray are necessary to correctly characterize chromosomal abnormalities.

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