Periodical
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRNin a patient with arthrogryposisHow to Cite this Article: Tabet AC, Aboura A, Gérard M, Pilorge M, Dupont C, Gadisseux JF, Hervy N, Pipiras E, Delahaye A, Kanafani S, Verloes A, Benzacken B, Betancur C. 2010. Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRNin a patient with arthrogryposis. Am J Med Genet Part C Semin Med Genet 152A:1781–1788.
العنوان: | Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRNin a patient with arthrogryposisHow to Cite this Article: Tabet AC, Aboura A, Gérard M, Pilorge M, Dupont C, Gadisseux JF, Hervy N, Pipiras E, Delahaye A, Kanafani S, Verloes A, Benzacken B, Betancur C. 2010. Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRNin a patient with arthrogryposis. Am J Med Genet Part C Semin Med Genet 152A:1781–1788. |
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المؤلفون: | Tabet, AnneClaude, Aboura, Azzedine, Gérard, Marion, Pilorge, Marion, Dupont, Céline, Gadisseux, JeanFrançois, Hervy, Nadège, Pipiras, Eva, Delahaye, Andrée, Kanafani, Samia, Verloes, Alain, Benzacken, Brigitte, Betancur, Catalina |
المصدر: | American Journal of Medical Genetics. Part A; July 2010, Vol. 152 Issue: 7 p1781-1788, 8p |
مستخلص: | Chromosome 6q duplications have been documented repeatedly, allowing the delineation of a “6q duplication syndrome,” characterized by hypertelorism, downslanting palpebral fissures, tented upper lip, short neck, severe mental and growth retardation, and joint contractures. Most reported cases result from malsegregation of a reciprocal translocation leading to a terminal 6q duplication and partial monosomy of another chromosome. Only 11 cases of de novo pure duplication have been reported so far. The breakpoints do not appear to be recurrent, but in most cases they have not been characterized molecularly, precluding genotype–phenotype correlation. We report on an 8yearold girl with a phenotype consistent with mild 6q duplication syndrome, including characteristic physical findings, mild mental retardation, and joint contractures. She carries a 13 Mb de novo 6q24.2q25.3 duplication, diagnosed by highresolution karyotype and confirmed by arrayCGH. Molecular characterization of the duplicated segment with quantitative PCR showed that the proximal breakpoint is localized within the UTRNgene, encoding utrophin, the autosomal homologue of dystrophin. We discuss the possible implication of UTRNin arthrogryposis associated with duplications spanning the 6q23q26 region. © 2010 WileyLiss, Inc. |
قاعدة البيانات: | Supplemental Index |
تدمد: | 15524825 15524833 |
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DOI: | 10.1002/ajmg.a.33433 |