J Pediatr Genet 2018; 07(02): 074-077
DOI: 10.1055/s-0037-1612598
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum

Pinar Arican
1   Department of Pediatric Neurology, Izmir Tepecik Education and Research Hospital, Izmir, Turkey
,
Dilek Cavusoglu
2   Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey
,
Pinar Gencpinar
2   Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey
,
Berk Ozyilmaz
3   Department of Genetics, Izmir Tepecik Education and Research Hospital, Izmir, Turkey
,
Taha Resid Ozdemir
3   Department of Genetics, Izmir Tepecik Education and Research Hospital, Izmir, Turkey
,
Nihal Olgac Dundar
2   Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey
› Author Affiliations
Further Information

Publication History

19 August 2017

31 October 2017

Publication Date:
18 December 2017 (online)

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Abstract

The Xp11.22–p11.23 duplication syndrome was described in 2009 by Giorda et al and is characterized by intellectual disability, speech delay, and electroencephalography anomalies. We report a case of a 23-month-old girl who presented with epilepsy and global developmental delay and who had a small duplication at Xp11.23. The case we present here is the first case showing the clinical features of Xp11.22–p11.23 duplication syndrome only involving synovial sarcoma, X breakpoint (SSX) genes: SSX1, SSX3, SSX4, and SSX9. This case report contributes to an expanding clinical spectrum of Xp11.22–p11.23 duplication syndrome.