Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil
| Autor: | Rosana Cardoso Manique Rosa, Rafael Fabiano Machado Rosa, Patrícia Petry, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin, Carla Graziadio, Vinicius Freitas de Mattos, Janaina Borges Polli |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Heart Defects Congenital Male Pediatrics medicine.medical_specialty Trisomy 13 Syndrome Chromosome Disorders Trisomy Trigonocephaly Prenatal diagnosis Microphthalmia Pregnancy Prenatal Diagnosis Cryptorchidism Genetics medicine Humans Microphthalmos Abnormalities Multiple Genetics (clinical) Anophthalmia Chromosomes Human Pair 13 Polydactyly Mosaicism business.industry Infant Prognosis medicine.disease Survival Analysis Hospitals Exact test Phenotype Karyotyping Female business Brazil |
| Zdroj: | American Journal of Medical Genetics Part A. 161:1278-1283 |
| ISSN: | 1552-4825 |
| Popis: | Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P |
| Databáze: | OpenAIRE |
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