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Distal monosomy of the long arm of chromosome 6 (6q25----6qter) inherited by maternal translocation t (6q;17q)

Oliveira-Duarte, M.H.; Martelli-Soares, L.R.; Sarquis-Cintra, T.; Machado, M.L.; Lison, M.P.

Annales de Genetique 33(1): 56-59

1990

ISSN/ISBN: 0003-3995
PMID: 2195984
Document Number: 363694
Two half-sisters with distal monosomy of the long arm of chromosome 6 (q25----qter) inherited by maternal translocation t(6q;17q) were investigated. The clinical manifestations of these patients are compared with eight cases reported in the literature for further characterization of the 6q-syndrome. The cytogenetic diagnosis of alterations involving small chromosome fragments and the different origins of this type of deletion are also discussed.

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