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

抄録

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.