2015•American Journal of Medical Genetics Part ARequires access

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

Open publisher page 5 citations

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.

About this research paper

What this paper is about

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.

Why it matters

OpenAlex reports 5 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available 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.

Key concepts: DiGeorge syndrome, Microdeletion syndrome, Williams syndrome, Intellectual disability, Genetics, Medicine, Biology, Psychiatry

Related papers

Back to paper searchBrowse research topicsOriginal source
Co‐occurrence of a de novo Williams and 22q11.2 microdeletion syndromes — Research Paper | ScholarLens