Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome.
AUTOR(ES)
Wilson, W G
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049187Documentos Relacionados
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