Partial duplication of 3q (q25.1→q26.1) without the Brachmann‐de Lange phenotype
- 15 November 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 47 (7) , 1068-1071
- https://doi.org/10.1002/ajmg.1320470727
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.Keywords
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