Journal of Pediatric Cardiology and Cardiac Surgery

Online ISSN: 2433-1783 Print ISSN: 2433-2720
Japanese Society of Pediatric Cardiology and Cardiac Surgery
Japanese Society of Pediatric Cardiology and Cardiac Surgery Academy Center, 358-5 Yamabuki-cho, Shinju-ku, Tokyo 162-0801, Japan
Journal of Pediatric Cardiology and Cardiac Surgery 2(2): 87-90 (2018)

Case ReportCase Report

Case Studies on the Molecular Diagnosis of Mowat–Wilson Syndrome: The Role of Chromosomal Microarray in Approaching Syndromic Congenital Heart Defects

1Department of Pediatrics, Graduate School of Medicine, The University of Tokyo ◇ Tokyo, Japan

2JSPS Research Fellow, Japan Society for the Promotion of Science ◇ Tokyo, Japan

3Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University ◇ Kyoto, Japan

受付日:2017年12月11日Received: December 11, 2017
受理日:2018年5月10日Accepted: May 10, 2018
発行日:2018年7月1日Published: July 1, 2018

Clinical recognition of the rarely occurring forms of syndromic congenital heart defects is not always straightforward. Chromosomal microarray testing is known to play promising roles in the diagnosis of congenital disorders presenting with multiple anomalous features. Herein, chromosomal microarray testing proved effective in establishing the molecular diagnosis of Mowat–Wilson syndrome, one of the under-recognized, phenotypically variable genetic syndromes often presenting with a congenital heart defect. Taking advantage of the increasingly available genetic diagnostic tools may aid in paving our way through the complicated differential diagnoses in such unexplained syndromic congenital heart defect circumstances.

Key words: chromosomal microarray; Mowat–Wilson syndrome; syndromic congenital heart defects

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