Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7
| Autor: | Kiyotake Hirayama, Kaoru Yoshida, Yoshinori Izumikawa, Tadao Orii, Kenji Naritomi, Nobuyuki Shimozawa, Satoshi Ohshiro, Yasuyuki Suzuki |
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| Rok vydání: | 1989 |
| Předmět: |
medicine.medical_specialty
Biology Microbodies Cerebrohepatorenal syndrome Gene mapping Reference Values Peroxisomal disorder Genetics medicine Humans Zellweger Syndrome Genetics (clinical) Chromosomal inversion Chromosome 7 (human) Zellweger syndrome Fatty Acids Infant Newborn Cytogenetics Chromosome Mapping Karyotype Acetyl-CoA C-Acyltransferase medicine.disease Chromosome Banding Sphingomyelins Karyotyping Chromosome Inversion Female Acyl-CoA Oxidase Oxidoreductases Chromosomes Human Pair 7 |
| Zdroj: | Human Genetics. 84:79-80 |
| ISSN: | 1432-1203 0340-6717 |
| Popis: | The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger syndrome associated with a rearrangement of chromosome 7, the tentative gene assignment to 7q11 being further supported; the gene is probably confiend to 7q11.23. |
| Databáze: | OpenAIRE |
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