Co‐occurrence of a de novo Williams and 22q11.2 microdeletion syndromes
Anju Shukla, Kausik Mandal, Siddaramappa Jagdish Patil, Yougal Kishore, Shubha Rajendra Phadke, Katta M. Girisha
Abstract
Anju Shukla, Kausik Mandal, Siddaramappa Jagdish Patil, Yougal Kishore, Shubha Rajendra Phadke, Katta M. Girisha
Abstract
We report on a child with de novo deletions involving the 7q11.23 (Williams syndrome) and 22q11.2 (Velocardiofacial/DiGeorge syndrome) regions. We describe the clinical features of this rare double microdeletion syndrome reported here for the first time.
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We report on a child with de novo deletions involving the 7q11.23 (Williams syndrome) and 22q11.2 (Velocardiofacial/DiGeorge syndrome) regions. We describe the clinical features of this rare double microdeletion syndrome reported here for the first time.
Key concepts: DiGeorge syndrome, Microdeletion syndrome, Williams syndrome, Intellectual disability, Genetics, Medicine, Biology, Psychiatry