Article
Partial duplication of 3q (q25.1-->q26.1) without the Brachmann-de Lange phenotype.
American journal of medical genetics - 15 Nov 1993
Lopez-Rangel E, Dill F J, Hrynchak M A, Van Allen M I
Abstract excerpt
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...
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