Please use this identifier to cite or link to this item:
http://doi.org/10.25358/openscience-4935Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Schönfeld, Mascha | - |
| dc.contributor.author | Selig, Mareike | - |
| dc.contributor.author | Russo, Alexandra | - |
| dc.contributor.author | Lindner, Christine | - |
| dc.contributor.author | Kampmann, Christoph | - |
| dc.contributor.author | Mildenberger, Eva | - |
| dc.contributor.author | Whybra, Catharina | - |
| dc.date.accessioned | 2020-06-29T12:57:22Z | - |
| dc.date.available | 2020-06-29T14:57:22Z | - |
| dc.date.issued | 2020 | - |
| dc.identifier.uri | https://openscience.ub.uni-mainz.de/handle/20.500.12030/4938 | - |
| dc.description.abstract | Background: Nonimmune hydrops fetalis (NIHF) is still a challenging diagnosis. The differential diagnosis is extensive and the success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. For the early diagnosis of NIHF, a virtual gene panel diagnostic tool was developed. The female premature baby in question was delivered via emergency cesarean at 30 1 weeks of gestational age (GA) due to rapidly developing NIHF to a healthy mother. The family history was noncontributory. Methods DNA of the family was extracted and sequenced by the virtual hydrops panel with whole-exome sequencing. Results: The hydrops panel revealed Noonan syndrome (NS) with a germline mutation in PTPN11 c.218C>T (p.Thr73Ile). Conclusion: The diagnosis of our patient was rapidly confirmed by the hydrops panel. The variant of c.218C>T (p.Thr73Ile) has not yet been described in literature relating to NIHF. Only a few case reports of this variant are known. This particular mutation is associated with Noonan syndrome, congenital heart defect and persistent thrombocytopenia. Few reveal juvenile myelomonocytic leukemia. | en_GB |
| dc.description.sponsorship | DFG, Open Access-Publizieren Universität Mainz / Universitätsmedizin | - |
| dc.language.iso | eng | - |
| dc.rights | CC BY-NC | de_DE |
| dc.rights.uri | https://creativecommons.org/licenses/by-nc/4.0/ | - |
| dc.subject.ddc | 610 Medizin | de_DE |
| dc.subject.ddc | 610 Medical sciences | en_GB |
| dc.title | Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia | en_GB |
| dc.type | Zeitschriftenaufsatz | de_DE |
| dc.identifier.urn | urn:nbn:de:hebis:77-publ-598884 | - |
| dc.identifier.doi | http://doi.org/10.25358/openscience-4935 | - |
| jgu.type.dinitype | article | - |
| jgu.type.version | Published version | en_GB |
| jgu.type.resource | Text | - |
| jgu.organisation.department | FB 04 Medizin | - |
| jgu.organisation.number | 2700 | - |
| jgu.organisation.name | Johannes Gutenberg-Universität Mainz | - |
| jgu.rights.accessrights | openAccess | - |
| jgu.journal.title | Molecular genetics & genomic medicine | - |
| jgu.journal.volume | 8 | - |
| jgu.journal.issue | 5 | - |
| jgu.pages.alternative | e1174 | - |
| jgu.publisher.year | 2020 | - |
| jgu.publisher.name | Wiley | - |
| jgu.publisher.place | Chichester u.a. | - |
| jgu.publisher.uri | http://dx.doi.org/10.1002/mgg3.1174 | - |
| jgu.publisher.issn | 2324-9269 | - |
| jgu.organisation.place | Mainz | - |
| jgu.subject.ddccode | 610 | - |
| opus.date.accessioned | 2020-06-29T12:57:22Z | - |
| opus.date.modified | 2020-07-06T10:14:56Z | - |
| opus.date.available | 2020-06-29T14:57:22 | - |
| opus.subject.dfgcode | 00-000 | - |
| opus.organisation.string | FB 04: Medizin: Zentrum für Kinder- und Jugendmedizin - Schwerpunkt pädiatrische Kardiologie | de_DE |
| opus.organisation.string | FB 04: Medizin: Klinik und Poliklinik für Geburtshilfe und Frauenkrankheiten | de_DE |
| opus.organisation.string | FB 04: Medizin: Zentrum für Kinder- und Jugendmedizin | de_DE |
| opus.organisation.string | FB 04: Medizin: Institut für Humangenetik | de_DE |
| opus.organisation.string | FB 04: Medizin: III. Medizinische Klinik und Poliklinik | de_DE |
| opus.identifier.opusid | 59888 | - |
| opus.institute.number | 0470 | - |
| opus.institute.number | 0445 | - |
| opus.institute.number | 0462 | - |
| opus.institute.number | 0430 | - |
| opus.institute.number | 0427 | - |
| opus.metadataonly | false | - |
| opus.type.contenttype | Keine | de_DE |
| opus.type.contenttype | None | en_GB |
| opus.affiliated | Russo, Alexandra | - |
| opus.affiliated | Lindner, Christine | - |
| opus.affiliated | Kampmann, Christoph | - |
| opus.affiliated | Mildenberger, Eva | - |
| opus.affiliated | Whybra, Catharina | - |
| jgu.publisher.doi | 10.1002/mgg3.1174 | |
| jgu.organisation.ror | https://ror.org/023b0x485 | |
| Appears in collections: | JGU-Publikationen | |
