Partial duplication of 3q (q25.1-->q26.1) without the Brachmann-de Lange phenotype.
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.
Lopez-Rangel
E
E
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Dill
F J
FJ
Hrynchak
M A
MA
Van Allen
M I
MI
D000293:Adolescent; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002893:Chromosomes, Human, Pair 3; D003635:De Lange Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype