Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes

Anju Shukla, Kausik Mandal, Siddaramappa J. Patil, Yougal Kishore, Shubha R. Phadke, Katta M. Girisha

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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.

Original languageEnglish
Pages (from-to)1927-1931
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number8
DOIs
Publication statusPublished - 01-08-2015

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All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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