Miller-Dieker syndrome: Lissencephaly andmonosomy 17p
| Autor: | Julie T. Parke, R. F. Stratton, Frank Greenberg, Robert L. Nussbaum, David H. Ledbetter, William B. Dobyns |
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| Rok vydání: | 1983 |
| Předmět: |
Adult
Male Monosomy Ring chromosome Lissencephaly Chromosome Disorders Chromosomal translocation behavioral disciplines and activities Translocation Genetic Seizures medicine Humans Abnormalities Multiple Chromosomes Human 16-18 Cerebral Cortex Chromosome Aberrations Genetics Miller–Dieker syndrome business.industry Infant Syndrome medicine.disease Chromosome Banding Radiography Chromosome 17 (human) Phenotype Child Preschool Pediatrics Perinatology and Child Health Microcephaly Female Abnormality business |
| Zdroj: | The Journal of Pediatrics. 102:552-558 |
| ISSN: | 0022-3476 |
| DOI: | 10.1016/s0022-3476(83)80183-8 |
| Popis: | Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, has been reported to have an autosomal recessive pattern of inheritance. However, we have found abnormalities of chromosome 17 in two of three unrelated patients with this syndrome, one with a ring chromosome 17 and the other with an unbalanced translocation resulting in partial monosomy of 17p13. A review of the literature revealed five additional patients in three families, who had Miller-Dieker syndrome and an abnormality of 17p. Thus, we propose that monosomy of distal 17p may be the cause of Miller-Dieker syndrome in some patients. |
| Databáze: | OpenAIRE |
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