Genotype/phenotype analysis in a patient with pure and complete trisomy 12p
| Autor: | Walter, Zumkeller, Marianne, Volleth, Petra, Muschke, Holger, Tönnies, Anita, Heller, Thomas, Liehr, Peter, Wieacker, Markus, Stumm |
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| Rok vydání: | 2004 |
| Předmět: |
Chromosomes
Human Pair 12 Epilepsy Genotype Nucleic Acid Hybridization Chromosome Disorders Trisomy Chromosome Banding Chromosome Painting Craniofacial Abnormalities Phenotype Macroglossia Intellectual Disability Karyotyping Humans Abnormalities Multiple Female Child In Situ Hybridization Fluorescence |
| Zdroj: | American journal of medical genetics. Part A. (3) |
| ISSN: | 1552-4825 |
| Popis: | Reports on patients with pure and complete trisomy 12p are rare. Up to now, 12 cases have been described in the literature. Here, we report on the genotype/phenotype-correlation of a female patient with a pure trisomy 12p. Conventional cytogenetic studies on peripheral blood chromosomes as well as molecular cytogenetic (fluorescence in situ hybridization, FISH) techniques including whole chromosome painting (WCP), comparative genomic hybridization (CGH), multicolor-banding (MCB) detected a female karyotype with an abberant chromosome 12:46,XX,der(12).ish dup(12)(pter --q24.3::p11.2 --pter). In addition to the trisomy 12p specific clinical hallmarks, the patient showed some features of Pallister-Killian syndrome (PKS) such as sparse hair, macroglossia, and epilepsy. These findings contribute to the genotype/phenotype correlation in trisomy 12p patients. |
| Databáze: | OpenAIRE |
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