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Updated: Aug 16, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Partial duplication of 3q (q25.1-->q26.1) without the Brachmann-de Lange phenotype
E Lopez-Rangel1, F J Dill, M A Hrynchak
1Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Abstract:
Partial duplications of chromosome 3 have previously been reported to have phenotypic characteristics similar to Brachmann-de Lange syndrome (BDLS). We present the case of a 13-year-old girl with an apparent duplication in the 3q25.1-->q26.1 region but none of the manifestations commonly seen in BDLS. The chromosome 3 duplication was confirmed with a FISH painting probe of the involved region. These results suggest that the region critical for Brachmann-de Lange syndrome is not within the duplicated region of 3q25.1-->q26.1.
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