Parental origin of de novo chromosome 9 deletions in del(9p) syndrome
| Autor: | Jeffrey M. Conroy, Stuart Schwartz, Carol A. Crowe, Mark A. Micale, J. Marie Haren |
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| Rok vydání: | 1995 |
| Předmět: |
Genetic Markers
Male Chromosome 9 DNA Satellite Biology Polymerase Chain Reaction DNA sequencing law.invention Pathogenesis Gene mapping law Humans Child Gene Genetics (clinical) Polymerase chain reaction Repetitive Sequences Nucleic Acid Genetics Polymorphism Genetic Chromosome Mapping Syndrome Molecular biology Microsatellite Female Chromosome Deletion Chromosomes Human Pair 9 Genomic imprinting |
| Zdroj: | American Journal of Medical Genetics. 57:79-81 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320570118 |
| Popis: | Parental origin of de novo deletions in the short arm of chromosome 9 in patients with a clinical diagnosis of del(9p) syndrome was assessed in 13 patients using polymerase chain reaction (PCR) analysis of highly polymorphic dinucleotide repeat microsatellite markers located in the putative deleted region. The deletion was found to be of paternal origin in 9 cases and of maternal origin in the remaining 4 cases, suggesting that the molecular event resulting in the deletion occurs in both male and female gametogenesis and that genomic imprinting does not appear to play a role in the pathogenesis of del(9p) syndrome. |
| Databáze: | OpenAIRE |
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