Duplication of part of the long arm of chromosome 8 due to a familial 8; 13 translocation
| Autor: | L. Lindgren, K.-M. Lundmark, L. Iselius, A. Bredberg |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Heart Defects
Congenital Male congenital hereditary and neonatal diseases and abnormalities Heart malformation Somatic cell Trisomy Chromosomal translocation Biology Long arm Translocation Genetic Epilepsy Intellectual Disability Gene duplication Genetics medicine Humans Chromosomes Human 6-12 and X Infant Newborn Chromosome Karyotype General Medicine medicine.disease Pedigree Phenotype Female Chromosomes Human 13-15 |
| Zdroj: | Hereditas. 96:105-108 |
| ISSN: | 0018-0661 |
| DOI: | 10.1111/j.1601-5223.1982.tb00041.x |
| Popis: | A newborn boy with mental retardation, epilepsy, heart malformation and minor somatic abnormalities was found to have a 46, XY,-13,+der(13), t(8;13) (q21;p11) karyotype. The balanced form of the translocation was observed in the mother. |
| Databáze: | OpenAIRE |
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