Title: Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 cases
Authors: De Gregori, Manuela ×
Ciccone, Roberto
Magini, Pamela
Pramparo, Tiziano
Gimelli, Stefania
Messa, Jole
Novara, Francesca
Vetro, Annalisa
Rossi, Elena
Maraschio, Paola
Bonaglia, Maria Clara
Anichini, Cecilia
Ferrero, Giovanni Battista
Silengo, Margherita
Fazzi, Elisa
Zatterale, Adriana
Fischetto, Rita
Previderè, Carlo
Belli, Serena
Turci, Alessandra
Calabrese, Giuseppe
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
Cifuentes, Francisco
Van Esch, Hilde
Backx, Liesbeth
Schinzel, Albert
Vermeesch, Joris
Zuffardi, Orsetta #
Issue Date: Dec-2007
Publisher: British Medical Association
Series Title: Journal of Medical Genetics vol:44 issue:12 pages:750-762
Abstract: Introduction and METHODS: We report the screening of 41 de novo reciprocal translocations and 18 de novo complex chromosome rearrangements (CCRs) using array-CGH. All cases had been interpreted as "balanced" by conventional cytogenetics. RESULTS: Twenty-seven cases of reciprocal translocations were detected in patients with an abnormal phenotype and after array-CGH analysis eleven resulted unbalanced. Thus we found that 40% of patients with a "chromosomal phenotype" and an apparently balanced translocation were unbalanced (11 cases out of 27), and that 18% of the reciprocal translocations were instead complex rearrangements (5 cases out of 27) with more than three breakpoints. Fourteen fetuses with de novo apparently balanced translocations, all but two with normal ultrasound findings, were also analyzed and all resulted normal after array-CGH. Thirteen CCRs were detected in individuals with abnormal phenotypes, two in females with repeated abortions and three in fetuses. We found that sixteen were unbalanced with up to four deletions. DISCUSSION: Our investigations suggest that genome-wide array-CGH may be recommendable in all carriers of "balanced" CCRs. The parental origin of the deletions was investigated in five reciprocal translocations and eleven CCRs. All resulted to be paternal. Using customized platforms in seven cases of CCRs, we narrowed down the deletion breakpoints to few-hundreds base pairs and no susceptibility motifs were associated with the imbalances. Our findings demonstrate that the phenotypic abnormalities of apparently balanced de novo CCRs are mainly due to cryptic deletions and that spermatogenesis is more prone to generate multiple chaotic chromosome imbalances and reciprocal translocations than oogenesis.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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