Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.

Journal of Medical Genetics
Roberto CicconeOrsetta Zuffardi

Abstract

Molecular definition at the BAC level of an 8p dicentric chromosome and an 8p deleted chromosome is reported in a patient with two different cell lines. The dicentric, which differed from that generating the recurrent inv dup del(8p) for the location of its break point, originated during the paternal meiosis on the background of the classical 8p23.1 inversion polymorphism. The breakage of this dicentric gave rise to the 8p deleted chromosome which, as a result of the inversion, had two non-contiguous deletions. These findings confirm previous data on 1p distal deletions, showing that at least some of the deletions stem from the breakage of dicentric chromosomes. They suggest that non-contiguous deletions may be frequent among distal deletions. This type of rearrangement can easily be overlooked when two contiguous clones, one absent and the other present by FISH analysis, are taken as boundaries of the deletion break point; in this case only high resolution array-CGH will reveal their real frequency. The definition of such non-contiguous distal deletions is relevant for phenotype/karyotype correlations. There are historical examples of blunders caused by overlooking a second non-contiguous deletion. This paper shows how small s...Continue Reading

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Aug 8, 2008·European Journal of Human Genetics : EJHG·Samarth BhattFranck Pellestor
May 13, 2010·European Journal of Human Genetics : EJHG·Shihui YuWilliam D Graf
Oct 18, 2012·European Journal of Human Genetics : EJHG·Silvana BeriRoberto Giorda
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Jul 19, 2020·Brain Sciences·Manuela Lo BiancoPiero Pavone
May 8, 2018·Current Genetic Medicine Reports·Tamim H Shaikh

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