A new unbalanced chromosomal abnormality in 1q31.1 to 1q32 without phenotypic consequences

摘要

A familial duplication in the long arm of one chromosome 1 was detected due to recurrent abortions in a couple. The duplication was present in the male partner of the couple and in his mother, both clinically healthy. By reverse FISH, the duplicationwas determined to be located in lq31. Multicolor banding (MCB) and application of locus-specific probes narrowed down the breakpoints to lq31.1 and lq32. The duplication spans a region of 13.9 Mb. None of the two breakpoints was colocalized with a knownfragile site in lq31.2, which, however, was duplicated. To the best of our knowledge, this is the first report of an unbalanced chromosome abnormality in this region that is not correlated with any clinical consequences.