A case of hereditary novel mutation in SLC26A2 gene (c.1796 A.> C) identified in a couple with a fetus affected with atelosteogenesis type 2 phenotype in an antecedent pregnancy
| Autor: | Meenu Batra, Gopinathan Kannoly, Seneesh Kumar Vikraman, Bijoy Balakrishnan, Rekha Kuriakose, Vipin Chandra |
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| Rok vydání: | 2015 |
| Předmět: |
Genetics
Embryology medicine.medical_specialty Pregnancy Fetus 030219 obstetrics & reproductive medicine biology Antecedent (logic) business.industry Obstetrics and Gynecology SLC26A2 medicine.disease Phenotype 03 medical and health sciences 0302 clinical medicine Endocrinology Atelosteogenesis 030225 pediatrics Internal medicine Pediatrics Perinatology and Child Health biology.protein medicine business Novel mutation Gene |
| Zdroj: | Case Reports in Perinatal Medicine. 5:65-67 |
| ISSN: | 2192-8959 2192-8932 |
| DOI: | 10.1515/crpm-2014-0059 |
| Popis: | Atelosteogenesis type 2 also known as atelosteogenesis de la Chapelle type, De la Chapelle dysplasia, McAlister dysplasia or neonatal osseous dysplasia 1 is an extremely lethal osteochondrodysplasia with unknown incidence. Very few cases have been reported in the literature. We present a case with findings of prenatal ultrasound, autopsy and cytogenetic work up with report of a novel familial mutation. |
| Databáze: | OpenAIRE |
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