Fragile site and interstitial telomere repeat sequences at the fusion point of a de novo (Y;13) translocation |
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Authors: | Mohamed Boutouil Raouf Fetni Jinhi Qu Louis Dallaire Claude-Lise Richer N Lemieux |
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Institution: | Département de pathologie, Faculté de Médecine, Université de Montréal, C. P. 6128, Succ. Centre-ville, Montréal, Québec, H3C 3J7, Canada Tel.: +1-514-343-6309; Fax: +1-514-343-5755, CA Département de pathologie and Service de génétique médicale, H?pital Sainte-Justine, 3175 C?te Ste-Catherine, Montréal, Québec, H3T 1C5, Canada, CA Département d’anatomie, Université de Montréal, Faculté de Médecine, C. P. 6128, Succ. Centre-ville, Montréal, Québec, H3C 3J7, Canada, CA
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Abstract: | We describe a novel fragile site in a rearranged chromosome, associated with the presence of telomeric repeat sequences at
the fusion point of a translocation between chromosomes 13 and Y. The case reported in this study shows a de novo (Y;13) translocation,
which appears to represent fusion of an apparently intact chromosome Y with a chromosome 13 that has lost only part of its
short arm. Ten percent of the cells show a normal karyotype without the (Y;13) translocation. Molecular cytogenetic studies
of the derived Y;13 chromosome revealed three hybridization sites of the telomeric probes – one at each end and one at the
breakpoint junction. A fragile site is also observed in the intrachromosomic telomeric region. This coincidence suggests that
the telomere repeat sequences (TTAGGG)n, when present at an interstitial chromosomal location, can promote the formation of
a novel fragile site.
Received: 15 November 1995 / Revised: 6 March 1996 |
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