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A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region |
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| Authors: | C A Brandt Hermann-Josef Lüdecke Johnny Hindkjær Helle Strømkjær Daniel Pinkel Troels Herlin Lars Bolund Ursula Friedrich |
| Institution: | Institute of Human Genetics, University of Aarhus, DK-8000 Aarhus C, Denmark Tel.: +45-8949-4363; Fax: +45-8949-4370; e-mail: carsten@humgen.aau.dk, DK Institut für Humangenetik, Universit?tsklinikum, Hufelandstrasse 55, D-45122 Essen, Germany, DE Department of Laboratory Medicine, Division of Molecular Cytometry, University of California San Francisco, San Francisco, Calif., USA, US Department of Paediatrics, Aarhus University Hospital, Kommunehospitalet, Denmark, DK |
| Abstract: | Molecular cytogenetic analyses have resolved the pathogenetic aberration of an 8-year-old girl with tricho-rhino-phalangeal syndrome type I (TRPS I), normal intelligence, and a karyotype originally described as 46,XX,t(8;13)(q24;q21). R- and Q-banding and high resolution R-banding analyses have also disclosed a seemingly mosaic abnormality of the distal short arm of chromosome 7 but have not fully characterized this abnormality. Combined primed in situ labelling and chromosome painting, and three-colour chromosome painting have revealed a complex, apparently balanced translocation t(7;13;8). Fluorescence in situ hybridization with yeast artificial chromosome and cosmid clones from 8q24.1 has shown an interstitial deletion of at least 3 Mb covering most of the TRPS I critical region. Received: 27 December 1996 / Accepted: 27 March 1997 |
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