Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
| Autor: | Barbara Zoll, Ursula Dybowski, Silke Pauli, Peter Burfeind, Moneef Shoukier, Rudolf Funke, Iris Bartels, Thomas Schmidt |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Pathology medicine.medical_specialty Genotype Marker chromosome Buccal swab Abnormal Karyotype Trisomy Biology 03 medical and health sciences 0302 clinical medicine Genetics medicine Humans Abnormalities Multiple Supernumerary Lymphocytes Cells Cultured Genetics (clinical) Chromosome 12 Comparative Genomic Hybridization 0303 health sciences Chromosomes Human Pair 12 Mosaicism 030305 genetics & heredity Twins Monozygotic General Medicine Hair follicle medicine.disease 3. Good health Phenotype medicine.anatomical_structure Child Preschool 030217 neurology & neurosurgery Comparative genomic hybridization |
| Zdroj: | European Journal of Medical Genetics. 55:480-484 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2012.05.004 |
| Popis: | We report on monochorionic diamniotic male twins discordant for the trisomy 12p syndrome. Trisomy 12p mosaicism with a supernumerary der(12)(pter > q12) was detected in approximately 50% of lymphocytes in both children. Fluorescence in situ hybridisation (FISH) revealed a high grade mosaicism of approximately 77% trisomy 12p cells in buccal smear and 85% in hair follicles in the affected twin, while in the normal developing brother an additional 12p chromosome fragment could not be detected in those tissues. Instead, in 3% of buccal smear and hair follicle cells a minute supernumerary marker chromosome comprising central portions of chromosome 12 was observed. Trisomy 12p mosaicism, confined to the lymphocytes of the unaffected twin, may be due to prenatal twin-to-twin transfusion, explaining the conspicuously discordant clinical phenotype. We discuss the possible sequence of events leading to the cytogenetic findings and compare the clinical phenotype presented in the affected twin with other cases of trisomy 12p and tetrasomy 12p (Pallister-Killian syndrome). |
| Databáze: | OpenAIRE |
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