Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

De Gregori, Manuela; Ciccone, Roberto; Magini, Pamela; Pramparo, Tiziano; Gimelli, Stefania; Messa, Jole; Novara, Francesca; Vetro, Annalisa; Rossi, Elena; Maraschio, P; Clara Bonaglia, María; Anichini, Cecilia; Battista Ferrero, Giovanni; Silengo, Margherita; Fazzi, Elisa; Zatterale, Adriana; Fischetto, Rita; Previderé, Carlo; Belli, S.; Turci, Alessandra; Calabrese, G; Bernardi, Franca; Meneghelli, Emanuela; Riegel, Mariluce; Rocchi, Mariano; Guerneri, Silvana; Lalatta, Faustina; Zelante, Leopoldo; Romano, Corrado; Fichera, Marco; Mattina, Teresa; Arrigo, Giulia; Zollino, Marcella; Giglio, Sabrina; Lonardo, Fortunato; Bonfante, Aldo; Ferlini, Alessandra; Tejada Cifuentes, Francisco; Van Esch, Hilde; Backx, Liesbeth; Schinzel, Albert; Vermeesch, Joris; Zuffardi, Orsetta

doi:10.1136/jmg.2007.052787

Public

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Published in Journal of Medical Genetics • Aug 31, 2007

Authors:

Manuela De Gregori

Roberto Ciccone

Pamela Magini

Abstract

Using array comparative genome hybridisation (CGH) 41 de novo reciprocal translocations and 18 de novo complex chromosome rearrangements (CCRs) were screened. All cases had been interpreted as "balanced" by conventional cytogenetics. In all, 27 cases of reciprocal translocations were detected in pat...

Subject

Chromosomal translocation

Breakpoint

Biology

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