FISH analysis in Prader-Willi and Angelman syndrome patients
| Autor: | Angelo Selicorni, Daniela Giardino, Graziano Grugni, F Carnevale, Lidia Larizza, N. Rizzi, D. Bettio, V. Briscioli |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty In situ hybridization Biology Chromosome 15 Angelman syndrome Happy puppet syndrome medicine Humans Genetics (clinical) In Situ Hybridization Fluorescence Genetics Chromosomes Human Pair 15 DNA–DNA hybridization Cytogenetics nutritional and metabolic diseases Chromosome Mapping Karyotype medicine.disease Molecular biology nervous system diseases Chromosome Banding Cosmid Angelman Syndrome Chromosome Deletion Prader-Willi Syndrome |
| Zdroj: | American journal of medical genetics. 56(2) |
| ISSN: | 0148-7299 |
| Popis: | We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text