The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus |
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Authors: | Kazushiro Tsuji Kouji Narahara Yuji Yokoyama Karl-Heinz Grzeschik Jürgen Kunz |
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Affiliation: | (1) Medizinisches Zentrum für Humangenetik der Philipps-Universität, Bahnhofstrasse 7, D-35037 Marburg, Germany;(2) Department of Pediatrics, Okayama University Medical School, Okayama, Japan |
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Abstract: | We previously reported a patient with an apparently balanced t(6;7) translocation and craniosynostosis. We now demonstrate, by fluorescence in situ hybridization, that the yeast artificial chromosome clone 933_e_l from the Centre d'Etude du Polymorphisme Humain library harbouring the D7S503 locus spans the breakpoint on distal 7p. Recent reports have defined a candidate region for a Saethre-Chotzen craniosynostosis locus between the loci D7S513 and D7S516, a region that includes the D7S503 locus. Since the translocation carrier shows only some of the symptoms characteristic for the Saethre-Chotzen syndrome, it remains unresolved whether the gene disrupted by the translocation event is the only one causing craniosynostosis in this chromosomal region. |
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