Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome.
Open Access
- 1 December 1983
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 20 (6) , 469-471
- https://doi.org/10.1136/jmg.20.6.469
Abstract
A patient with the Brachmann-de Lange syndrome was found to have an apparently balanced de novo translocation 14q; 21q. The relationship between this uncommon translocation and the patient's phenotype is unclear. Although most patients with the Brachmann-de Lange syndrome have normal chromosomes, the possibility of aetiological heterogeneity, including some rare chromosomal abnormalities, cannot be dismissed.Keywords
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