دورية أكاديمية
First Croatian Case of Double Aneuploidy: A Child With Klinefelter and Edwards Syndrome (48,XXY,+18) - Possible Causes and Contributing Factors.
| العنوان: | First Croatian Case of Double Aneuploidy: A Child With Klinefelter and Edwards Syndrome (48,XXY,+18) - Possible Causes and Contributing Factors. |
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| المؤلفون: | Batinović E; Department of Neonatology, University Hospital Centre Split, Split, Croatia. ena.sardelic@gmail.com., Papazovska Cherepnalkovski A; Department of Neonatology, University Hospital Centre Split, Split, Croatia.; University of Split, University Department of Health Studies, Split, Croatia., Lozić B; Department of Pediatrics, University Hospital Centre Split, Split, Croatia.; University of Split, School of Medicine, Split, Croatia., Brajković L; Department of Neonatology, University Hospital Centre Split, Split, Croatia., Zanchi I; Department of Neonatology, University Hospital Centre Split, Split, Croatia., Pavlov V; Department of Neonatology, University Hospital Centre Split, Split, Croatia., Bucat M; Department of Neonatology, University Hospital Centre Split, Split, Croatia. |
| المصدر: | Acta medica (Hradec Kralove) [Acta Medica (Hradec Kralove)] 2023; Vol. 66 (1), pp. 32-36. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Facultas Medica Hradec Kralove, Universitas Carolina Country of Publication: Czech Republic NLM ID: 9705947 Publication Model: Print Cited Medium: Internet ISSN: 1805-9694 (Electronic) Linking ISSN: 12114286 NLM ISO Abbreviation: Acta Medica (Hradec Kralove) Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hradec Kralove : Facultas Medica Hradec Kralove, Universitas Carolina Original Publication: Hradec Králové, Czech Republic : Universitas Carolina, Facultas Medica Hradec Králové, 1996- |
| مواضيع طبية MeSH: | COVID-19*/complications, Male ; Female ; Pregnancy ; Humans ; Trisomy 18 Syndrome/complications ; Croatia ; SARS-CoV-2 ; Aneuploidy |
| مستخلص: | We report a case of double aneuploidy in a preterm male newborn with karyotype 48,XXY,+18 whose mother was of advanced age and infected with the SARS-CoV-2 virus during the early stages of her pregnancy. The clinical features observed in the newborn included intrauterine growth retardation, dysmorphic facial features, overlapping fingers on both hands, respiratory distress syndrome, ventricular septal defect, patent ductus arteriosus, persistent pulmonary hypertension, and bilateral clubfoot, a phenotype that mainly correlates with Edwards syndrome (trisomy 18). To our knowledge, this is the first reported case of double aneuploidy in Croatia. This paper provides a detailed description of the clinical presentation and treatment strategies used, with the aim of providing valuable data for future recognition and management of similar cases. Furthermore, we discuss the mechanisms of nondisjunction that might account for this rare form of aneuploidy. |
| فهرسة مساهمة: | Keywords: COVID 19; Edwards Syndrome; Klinefelter Syndrome; aneuploidy; genetic nondisjunctions |
| تواريخ الأحداث: | Date Created: 20230629 Date Completed: 20230703 Latest Revision: 20230703 |
| رمز التحديث: | 20240628 |
| DOI: | 10.14712/18059694.2023.13 |
| PMID: | 37384808 |
| قاعدة البيانات: | MEDLINE |
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