Academic Journal
Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion
| العنوان: | Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion |
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| المؤلفون: | Mariano Stabile, Anna F. Rispoli, Maurizio Capuozzo, Umberto Ferbo, Guglielmo Stabile |
| المصدر: | Clinical Case Reports, Vol 11, Iss 7, Pp n/a-n/a (2023) |
| بيانات النشر: | Wiley, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Medicine LCC:Medicine (General) |
| مصطلحات موضوعية: | 16p12.2 microdeletion, bifid cardiac apex, multiple anomalies, prenatal ultrasound, spongiform cardiomyopathy, Medicine, Medicine (General), R5-920 |
| الوصف: | Key Clinical Message From a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from a normal father with autopsy description and evidence of spongious cardiomyopathy. First trimester intake of doxycycline could be a cofactor. Abstract Prenatal diagnosis of a 16p12.2 microdeletion, inherited from normal father, is reported in a dysmorphic 20 weeks fetus. Histopathological examination of the myocardium (not present in the 65 cases in literature) showed bifid apex of the heart and spongiotic structure. Correlation between the deleted genes and cardiomyopathy is discussed. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2050-0904 |
| Relation: | https://doaj.org/toc/2050-0904 |
| DOI: | 10.1002/ccr3.7602 |
| URL الوصول: | https://doaj.org/article/a0cdd4ebe4854c86b1a26637a4982509 |
| رقم الانضمام: | edsdoj.0cdd4ebe4854c86b1a26637a4982509 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20500904 |
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| DOI: | 10.1002/ccr3.7602 |