Mosaic tetrasomy 12p
| Autor: | Simone Gilgenkrantz, M. Lombard, Schweitzer M, Droulle P, B. Foliguet, Marguerite Prieur, M. Chery, B. Chadefaux |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
medicine.medical_specialty Limb Deformities Congenital Cardiomegaly Prenatal diagnosis Mosaic (geodemography) Biology Facial Bones Pallister–Killian syndrome Pregnancy Prenatal Diagnosis Tetrasomy 12p Genetics medicine Humans Abnormalities Multiple Teschler-Nicola-Killian Syndrome Genetics (clinical) Chromosome Aberrations Chromosomes Human 6-12 and X Mosaicism Skull Pallister mosaic syndrome Karyotype Syndrome medicine.disease Dermatology Chromosome Banding Karyotyping Tetrasomy Female |
| Zdroj: | Clinical Genetics. 28:495-502 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1985.tb00416.x |
| Popis: | Mosaic tetrasomy 12p is a dysmorphic syndrome which has been described under the name of Pallister mosaic syndrome and Teschler-Nicola/Killian syndrome and has sometimes been incorrectly interpreted as tetrasomy 21. Here we report the first case to be diagnosed prenatally and confirmed by enzyme assays, and we summarize the clinical and biological characteristics of all the cases reported so far under various names. |
| Databáze: | OpenAIRE |
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