Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies
Edward D. Esplin
Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California
Search for more papers by this authorBen Li
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California
Search for more papers by this authorAnne Slavotinek
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California
Search for more papers by this authorAntonio Novelli
Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
Search for more papers by this authorAgatino Battaglia
The Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone (Pisa), Italy
Search for more papers by this authorRobin Clark
Division of Medical Genetics, Department of Pediatrics, Loma Linda University, Loma Linda, California
Search for more papers by this authorCynthia Curry
Division of Medical Genetics, Department of Pediatrics, UCSF Fresno, Fresno, California
Search for more papers by this authorCorresponding Author
Louanne Hudgins
Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California
Correspondence to:
Dr. Louanne Hudgins, Division of Medical Genetics, Department of Pediatrics, 300 Pasteur Drive, H315 Stanford, CA 94305.
E-mail: [email protected]
Search for more papers by this authorEdward D. Esplin
Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California
Search for more papers by this authorBen Li
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California
Search for more papers by this authorAnne Slavotinek
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California
Search for more papers by this authorAntonio Novelli
Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy
Search for more papers by this authorAgatino Battaglia
The Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone (Pisa), Italy
Search for more papers by this authorRobin Clark
Division of Medical Genetics, Department of Pediatrics, Loma Linda University, Loma Linda, California
Search for more papers by this authorCynthia Curry
Division of Medical Genetics, Department of Pediatrics, UCSF Fresno, Fresno, California
Search for more papers by this authorCorresponding Author
Louanne Hudgins
Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California
Correspondence to:
Dr. Louanne Hudgins, Division of Medical Genetics, Department of Pediatrics, 300 Pasteur Drive, H315 Stanford, CA 94305.
E-mail: [email protected]
Search for more papers by this authorAbstract
Comparative genomic hybridization (CGH) arrays have significantly changed the approach to identifying genetic alterations causing intellectual disability and congenital anomalies. Several studies have described the microduplication of Xp22.31, involving the STS gene. In such reports characteristic features and pathogenicity of Xp22.31 duplications remains a subject of debate. Here we present a series of nine previously unreported individuals with Xp22.31 duplications, found through microarray analysis in the course of genetic workup for developmental delay, associated with a combination of talipes anomalies, seizures and/or feeding difficulties. The size of the Xp22.31 duplications ranged from 294 kb to 1.6 Mb. We show a comparison of the breakpoints, inheritance and clinical phenotype, and a review of the literature. This clinically detailed series of Xp22.31 duplication patients provides evidence that the Xp22.31 duplication contributes to a common phenotype. © 2014 Wiley Periodicals, Inc.
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