Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient
| Autor: | Ivo Henrichs, R. D. Wegner, Traute M. Schroeder-Kurth, Hans Joenje |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Turkey Diepoxybutane Biology Fingers Consanguinity chemistry.chemical_compound Fatal Outcome Fanconi anemia hemic and lymphatic diseases Chromosome instability Hypotelorism Genetics medicine Chromosomes Human Humans Lymphocytes Syndactyly Genetics (clinical) Cell Line Transformed Genetic Complementation Test Brachydactyly Infant Newborn medicine.disease Hypoplasia Fanconi Anemia Phenotype chemistry Brachycephaly |
| Zdroj: | Clinical Genetics. 50:479-482 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1996.tb02716.x |
| Popis: | The clinical and cytogenetic data of the first patient proven to belong to the fifth Fanconi anemia complementation group are described. The Turkish boy presented with psychomotoric retardation, growth retardation, retarded bone age, brachycephaly, hypotelorism, epicanthus, syndactyly, brachydactyly, renal dystopia, and cryptorchism. In addition, an asymmetrical skeletal anomaly was seen with a double distal phalanx of the left thumb and hypoplasia of the right thumb. Typical hematological features of the disorder developed, at the age of 2.5 years, about 1 year after diagnosis. Cytogenetic studies confirmed the clinical diagnosis and revealed a spontaneous chromosomal instability and hypersensitivity to the cross-linking agents diepoxybutane and Trenimon. The findings in the patient, who is considered to be the standard for the fifth Fanconi anemia complementation group, are compared with data reported for other patients affected with Fanconi anemia. |
| Databáze: | OpenAIRE |
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