Metatropic dysplasia: clinical and molecular diagnostics, genetic counseling
| Autor: | Elizabeth Timkovskaya, Amin Makaov, Lyudmila Mikhailova, Tatyana Vasilyeva, А. Marakhonov, Varvara Galkina, Sergey Kutsev, Rena Zinchenko |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Oncology
Spondyloepimetaphyseal dysplasia medicine.medical_specialty Pathology Genetic counseling Prenatal diagnosis Germline mosaicism General Medicine Biology medicine.disease Molecular diagnostics respiratory tract diseases Exon Genetic epidemiology hemic and lymphatic diseases Internal medicine Mutation (genetic algorithm) medicine therapeutics neoplasms |
| Zdroj: | Medical news of the North Caucasus. 11 |
| ISSN: | 2073-8137 |
| DOI: | 10.14300/mnnc.2016.11029 |
| Popis: | Metatropic dysplasia (MTD; OMIM #156530) is a rare spondyloepimetaphyseal dysplasia with autosomal dominant inheritance. Here we present the results of the clinical, radiological and molecular genetic diagnosis of MTD in a circassian girl with novel de novo p.Pro82Leu (NG_017090.1:g.23856C>T, c.245C>T) mutation in exon 1 of the TRPV4 gene. Considering gonadal mosaicism prenatal diagnosis in MTD families for the next pregnancies is recommended. |
| Databáze: | OpenAIRE |
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