Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray
Autor: | Dominic J. McMullan, Stephanie Allen, Julie Vogt, Fiona S. Togneri, E Quinlan-Jones, Lisa Reali, Mark D. Kilby, Malgorzata Drozniewska |
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Rok vydání: | 2020 |
Předmět: |
Microarray
lcsh:Medicine Case Report Prenatal diagnosis Case Reports 030204 cardiovascular system & hematology Bioinformatics 03 medical and health sciences 0302 clinical medicine Second trimester medicine microarrays Gene Genetic testing lcsh:R5-920 prenatal diagnosis medicine.diagnostic_test SF3B4 gene business.industry lcsh:R fungi food and beverages General Medicine 030220 oncology & carcinogenesis Clinical diagnosis DNA microarray lcsh:Medicine (General) business Nager syndrome |
Zdroj: | Clinical Case Reports, Vol 8, Iss 3, Pp 508-511 (2020) Clinical Case Reports |
ISSN: | 2050-0904 |
Popis: | Nager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatally. Prenatal chromosomal microarray can aid genotype‐phenotype correlation in pregnancies with structural abnormalities seen on ultrasound. |
Databáze: | OpenAIRE |
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