Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome
| Autor: | Claudia Backsch, Andreas Dufke, M. Döbler-Neumann, Martin Schöning, Herbert Enders, Thomas Liehr, Volkmar Beensen, J. Seidel, Christine Kelbova, U. Klein-Vogler |
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| Rok vydání: | 2001 |
| Předmět: |
Adult
Male Monosomy Adolescent Pregnancy High-Risk Biology Ultrasonography Prenatal Genetics medicine Diseases in Twins Humans Abnormalities Multiple Child Molecular Biology Wolf–Hirschhorn syndrome Genetics (clinical) In Situ Hybridization Fluorescence Polymorphism Genetic Infant Newborn Infant Syndrome medicine.disease Child Preschool Karyotyping Mutation (genetic algorithm) Amniocentesis Female Congenital disease Chromosome Deletion Chromosomes Human Pair 4 Maternal Age |
| Zdroj: | Cytogenetics and cell genetics. 91(1-4) |
| ISSN: | 0301-0171 |
| Popis: | Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome caused by partial monosomy of 4p16.3. Pitt-Rogers-Danks syndrome, first thought to be a distinct entity, is a similar condition associated with a microdeletion overlapping the WHS critical region. In this paper we evaluate three WHS patients showing a microdeletion of 4p and remarkable development with respect to the clinical spectrum of WHS. |
| Databáze: | OpenAIRE |
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