Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32
| Autor: | James Dowling, Inessa Grinberg, David H. Ledbetter, Christa Lese Martin, June Chung, Melissa B. Ramocki, Kathleen J. Millen, William B. Dobyns, Virginia Kimonis, Carlos Cardoso, Alyssa Gross |
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| Rok vydání: | 2003 |
| Předmět: |
Genetics
medicine.diagnostic_test Corpus Callosum Agenesis Chromosome Mapping Translocation Breakpoint Zinc Fingers Karyotype Chromosomal translocation Sequence Analysis DNA Biology Corpus callosum medicine.disease Translocation Genetic Coloboma Chromosomes Human Pair 2 Agenesis medicine Humans Female Agenesis of Corpus Callosum Chromosomes Human Pair 9 Agenesis of the corpus callosum Genetics (clinical) Fluorescence in situ hybridization |
| Zdroj: | European Journal of Human Genetics. 11:527-534 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/sj.ejhg.5200995 |
| Popis: | We have identified a female patient with a complex phenotype that includes complete agenesis of the corpus callosum, bilateral periventricular nodular heterotopia, and bilateral chorioretinal and iris colobomas. Karyotype analysis revealed an apparently balanced, reciprocal, de novo chromosome translocation t(2;9)(p24;q32). Physical mapping of the translocation breakpoint by fluorescence in situ hybridization and PCR analysis led to the identification of two novel, ubiquitously expressed, Zn-finger-encoding transcripts that are disrupted in this patient. Unexpectedly, the rearrangement produced in-frame reciprocal fusion transcripts, making genotype-phenotype correlation difficult. |
| Databáze: | OpenAIRE |
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