Article
A new unbalanced chromosomal abnormality in 1q31.1 to 1q32 without phenotypic consequences.
Cytogenetic and genome research - 1 Jan 2008
Mrasek K, Krüger G, Bauer I, Müller-Navia J, Liehr T, Weise A
Abstract excerpt
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 duplication was determined to be located in 1q31. Multicolor banding (MCB) and application of locus-specific probes narrowed down the breakpoints to 1q31.1 and 1q32. The...
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