Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome
| Autor: | Eliane S. Azevêdo, Maria das Graças de Freitas Sousa, AF Paes-Alves, Osório J. Oliveira‐Filho, Neli de Almeida-Melo |
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| Rok vydání: | 1991 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Heterozygote Foot Deformities Congenital Hearing loss Hearing Loss Sensorineural Hearing Loss Conductive Genes Recessive Consanguinity Score distribution Preliminary report medicine Humans Abnormalities Multiple Control sample Mixed deafness Dermatoglyphics Child Hearing Loss Genetics (clinical) Genetics Pseudopapilledema business.industry Genetic Carrier Screening Heterozygote advantage Pedigree Face Female medicine.symptom business Hand Deformities Congenital |
| Zdroj: | American journal of medical genetics. 41(2) |
| ISSN: | 0148-7299 |
| Popis: | We describe 3 patients with a new malformation syndrome in 2 sibships in a large kindred from Bahia, Brazil. The parents in both sibships are consanguineous. The syndrome is characterized by malformations of the face, ears, hands and feet, plus mixed deafness and pseudopapilledema. Fifty-four relatives were examined clinically and scored by the number of anomalies. A control sample of 54 individuals was equally examined. The distribution of the number of anomalies per individual (score) is bimodal in the relatives of the patients but unimodal in the control individuals. Detection of heterozygotes was based on the score distribution. |
| Databáze: | OpenAIRE |
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