Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity?
| Autor: | Gösta Holmgren, E. Holmberg, Erik Forestier, Tommy Söderstrom, Ingrid Nordenson, Jan Wahlström, Anders Fasth |
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| Rok vydání: | 1990 |
| Předmět: |
Male
Centromere Genes Recessive Stem cell marker Facial dysmorphism Consanguinity Chromosome instability medicine Humans Immunodeficiency Genetics biology Amniotic fluid cells Chromosome Fragility Gene defect Immunologic Deficiency Syndromes Infant Newborn Chromosome Infant General Medicine medicine.disease Pedigree Chromosomes Human Pair 1 Karyotyping Pediatrics Perinatology and Child Health biology.protein Female Antibody |
| Zdroj: | Acta paediatrica Scandinavica. 79(6-7) |
| ISSN: | 0001-656X |
| Popis: | Instability of the centromeric region of chromosome 1, and multibranched configurations formed by the short and long arms were seen in a brother and sister with facial dysmorphism, mental retardation and recurrent infections. No chromosomal abnormalities were seen in the parents, who were first cousins. The fragility of chromosome 1 was identified in amniotic fluid cells of the sister. A combined immunodeficiency characterized by a lack of immunoglobulin production, low numbers of T cells and a lack of cells with NK cell markers was diagnosed. This is the first report of familial occurrence of this unique chromosomal aberration. The cause may be an autosomal recessive gene defect. |
| Databáze: | OpenAIRE |
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