Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome
| Autor: | Romano Tenconi, Carla Silvan, L. Artifoni, Maurizio Clementi, Livio Bortotto, Licia Turolla |
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| Rok vydání: | 1991 |
| Předmět: |
Heart Defects
Congenital Male Chromosomes Human Pair 22 Chromosomal translocation Chromosome Disorders Dwarfism Biology Contiguous gene syndrome Choanal Atresia Translocation Genetic Leukocyte Count T-Lymphocyte Subsets Intellectual Disability medicine Humans Abnormalities Multiple Genetics (clinical) Genetics Chromosome Aberrations Autosome Immunologic Deficiency Syndromes Chromosome Infant Charge (physics) Syndrome medicine.disease Phenotype Child Preschool Chromosomes Human Pair 2 Chromosome abnormality Female Chromosomes Human Pair 3 Anomaly (physics) Chromosome 22 |
| Zdroj: | American journal of medical genetics. 41(2) |
| ISSN: | 0148-7299 |
| Popis: | This report concerns 2 unrelated patients with apparent CHARGE association and a chromosome abnormality, resulting from different unbalanced familial translocations involving chromosomes 2 and 18 in one family, and chromosomes 3 and 22 in the other. Although the identification of two different chromosome abnormalities might be due to chance, the observation of a long arm deletion of chromosome 22 in patients 2 and of the frequent coexistence of CHARGE association and DiGeorge anomaly raise the possibility of a contiguous gene syndrome in at least some CHARGE cases. |
| Databáze: | OpenAIRE |
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