Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases
| Autor: | Valeria Politi, Danila Sollima, Barbara Sinigaglia, Sergio Tempesta, Loredana Santarini, Luciano Bovicelli, Marina Stefani, Sara Ghezzo, Roberta Cernetti, Orsetta Zuffardi, Antonino Restuccia, Bommina Celso, Roberto Ciccone, Federica Balducci, Cinzia Marzocchi |
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| Přispěvatelé: | Tempesta, Sergio, Sollima, Danila, Ghezzo, Sara, Politi, Valeria, Sinigaglia, Barbara, Balducci, Federica, Celso, Bommina, Restuccia, Antonino, Stefani, Marina, Cernetti, Roberta, Marzocchi, Cinzia, Ciccone, Roberto, Zuffardi, Orsetta, Bovicelli, Luciano, Santarini, Loredana |
| Rok vydání: | 2008 |
| Předmět: |
Array-CGH
15q21 Deletion Biology Corpus callosum Chromosome 15 FISH Genetic Intellectual Disability Hypotelorism Genetics medicine Humans Abnormalities Multiple In Situ Hybridization Fluorescence Genetics (clinical) Chromosomes Human Pair 15 medicine.diagnostic_test Nucleic Acid Hybridization Mental retardation General Medicine medicine.disease Blepharophimosis Hypoplasia Developmental disorder Child Preschool Fish Female Chromosome Deletion Human Fluorescence in situ hybridization |
| Zdroj: | European Journal of Medical Genetics. 51:639-645 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2008.07.010 |
| Popis: | We report on a child with mild mental retardation, hypotelorism, blepharophimosis, face slight asymmetry and partial hypoplasia of corpus callosum, with an interstitial deletion of a chromosome 15. The deletion was molecularly characterized by array-CGH and FISH techniques. This rearrangement has a 7.18 Mb extension and maps to 15q21.2q22.1. To date, there have been only six individuals reported with a deletion of 15q21; in three cases, the rearrangement was characterized by molecular cytogenetic techniques. After a comparison with these three cases, it appeared that the deletion we found is one of the smallest and it overlaps the distal portion of the ones taken into account. Finally, we tried to delineate the genotype-phenotype correlation in patients with a deletion of 15q21. © 2008 Elsevier Masson SAS. All rights reserved. |
| Databáze: | OpenAIRE |
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