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Co‐occurrence of a de novo Williams and 22q11.2 microdeletion syndromes
Author(s) -
Shukla Anju,
Mandal Kausik,
Patil Siddaramappa J.,
Kishore Yougal,
Phadke Shubha R.,
Girisha Katta M.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37116
Subject(s) - digeorge syndrome , microdeletion syndrome , williams syndrome , intellectual disability , genetics , medicine , biology , psychiatry , gene , phenotype , cognition
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. © 2015 Wiley Periodicals, Inc.
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