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A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia |
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| Authors: | Ines Ouertani Myriam Chaabouni Ilhem Turki Marc Lelorc'h Tania Attié-Bitach Lamia Ben Jemaa Neziha Khouja-Gouider Habiba Chaabouni |
| Affiliation: | 1. Department of Oncology, Mayo Clinic, Rochester, MN, USA;2. Department of Diagnostic Bioinformatics, Technische Hochschule Wildau, Wildau, Germany;3. Alliance Statistics and Data Center, Mayo Clinic, Rochester, MN, USA;4. Guthrie Corning Cancer Center, Sayre, PA, USA;5. Iowa Wide Oncology Research Coalition, Des Moines, IA, USA;6. Department of Human Genetics and Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA |
| Abstract: | Interstitial deletions of 14q including band 14q31 are uncommon. We report on a 3 year-old Tunisian girl who had a de novo interstitial deletion of the long arm of chromosome 14. The molecular cytogenetic study has identified the deletion as a del(14)(q24.3q32.2) covering nearly 24 Mb. This abnormality was associated to phenotypic manifestations, mainly peculiar face, developmental delay and hypoplastic corpus callosum. |
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