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

Pinar Arican; Dilek Cavusoglu; Pinar Gencpinar; Berk Ozyilmaz; Taha Resid Ozdemir; Nihal Olgac Dundar

doi:10.1055/s-0037-1612598

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

J Pediatr Genet. 2018 Jun;7(2):74-77. doi: 10.1055/s-0037-1612598. Epub 2017 Dec 18.

Authors

Pinar Arican¹, Dilek Cavusoglu², Pinar Gencpinar², Berk Ozyilmaz³, Taha Resid Ozdemir³, Nihal Olgac Dundar²

Affiliations

¹ Department of Pediatric Neurology, Izmir Tepecik Education and Research Hospital, Izmir, Turkey.
² Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey.
³ Department of Genetics, Izmir Tepecik Education and Research Hospital, Izmir, Turkey.

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.

Keywords: duplication syndrome; intellectual disability; microarray analysis.

Publication types

Case Reports