Double aneuploidy in a 2-month-old male with Edward syndrome and Klinefelter syndrome: a case report.

Autor:	Mansour M; Faculty of Medicine, Tartous University, Tartous.; Division of Colon and Rectal Surgery, Department of Surgery, Mayo Clinic, Rochester, MN., AlZoubi A; Faculty of Medicine, Yarmouk University, Irbid, Jordan., Zoukar S; Faculty of Medicine., Aljammal G; Faculty of Medicine., Makki R; Faculty of Medicine, Aleppo University, Aleppo., Khaled NAH; Faculty of Medicine, Kalamoon University., Aletesh Y; Department of Neurology, Damascus University., Aljundi R; Faculty of Medicine., Mohammad Deeb A; Faculty of Medicine, Tishreen University, Latakia, Syrian Arab Republic., Ajlouni MO; Department of Pediatrics, Damascus University Children Hospital, Damascus.
Jazyk:	angličtina
Zdroj:	Annals of medicine and surgery (2012) [Ann Med Surg (Lond)] 2023 Nov 07; Vol. 86 (1), pp. 489-496. Date of Electronic Publication: 2023 Nov 07 (Print Publication: 2024).
DOI:	10.1097/MS9.0000000000001468
Abstrakt:	Introduction and Importance: Edward syndrome is a severe chromosomal defect that occurs as a result of non-disjunction through meiosis. It presents with cardiac septal defects, horseshoe kidneys, patent ductus arteriosus, central nervous system dysgenesis, distinctive craniofacial deformities, and overriding or overlapping fingers. Klinefelter syndrome (47, XXY) is found in 1 in 660 newborn males. It is considered to be one of the most common genetic causes of infertility. It manifests with small firm testes, androgen insufficiency, and azoospermia. Case Presentation: A 2-month-old male infant with a history of weakness in feeding, frequent convulsions, and an increase in cyanosis two days ago. There were multiple skeletal deformities and a tendency to spasm in the extremities, left ventricular atrophy, mitral atresia, atrial septal defect, ventricular septal defect with dilated right cavities, tricuspid valve regurgitation, pulmonary valve stenosis; and the aorta exits in the right ventricle. There is a widening of the subdural space, which was observed in the left frontal-parietal side with cortical atrophy in that area and a widening of the Sylvian fissure. A karyotype test confirmed the presence of Edward and Klinefelter syndromes. Clinical Discussion: Aneuploidy is a chromosomal issue characterized by an abnormal number of a chromosome copies. The coexistence of two aneuploidies is called "double aneuploidy" which is a rare occurrence. Herein, we report a case of a 2-month-old male with Edward syndrome and Klinefelter syndrome. Conclusion: This publication aims to highlight the challenges in diagnosing and treating a complicated genetic disease. Competing Interests: The authors declare that they have no conflicts of interest.Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.)
Databáze:	MEDLINE
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