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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.

Keywords

duplication syndrome - intellectual disability - microarray analysis
 

  • References

  • 1 Giorda R, Bonaglia MC, Beri S. , et al. Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. Am J Hum Genet 2009; 85 (03) 394-400
    CrossrefPubMedGoogle Scholar
  • 2 Stocco dos Santos RC, Castro NH, Lillia Holmes A. , et al. Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3. Am J Med Genet A 2003; 118A (03) 255-259
    CrossrefPubMedGoogle Scholar
  • 3 Santos-Rebouças CB, Fintelman-Rodrigues N, Jensen LR. , et al. A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay. Neurosci Lett 2011; 498 (01) 67-71
    CrossrefPubMedGoogle Scholar
  • 4 Portnoï MF, Bouayed-Abdelmoula N, Mirc M. , et al. Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation. Clin Genet 2000; 58 (02) 116-122
    CrossrefPubMedGoogle Scholar
  • 5 Weise A, Mrasek K, Klein E. , et al. Microdeletion and microduplication syndromes. J Histochem Cytochem 2012; 60 (05) 346-358
    CrossrefPubMedGoogle Scholar
  • 6 Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 2007; 17 (03) 182-192
    CrossrefPubMedGoogle Scholar
  • 7 Santos-Rebouças CB, de Almeida LG, Belet S. , et al. Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability. J Hum Genet 2015; 60 (04) 207-211
    CrossrefPubMedGoogle Scholar
  • 8 Fieremans N, Van Esch H, de Ravel T. , et al. Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features. Eur J Med Genet 2015; 58 (05) 324-327
    CrossrefPubMedGoogle Scholar
  • 9 Edens AC, Lyons MJ, Duron RM, Dupont BR, Holden KR. Autism in two females with duplications involving Xp11.22-p11.23. Dev Med Child Neurol 2011; 53 (05) 463-466
    CrossrefPubMedGoogle Scholar
  • 10 Güre AO, Wei IJ, Old LJ, Chen YT. The SSX gene family: characterization of 9 complete genes. Int J Cancer 2002; 101 (05) 448-453
    CrossrefPubMedGoogle Scholar
  • 11 Honda S, Hayashi S, Imoto I. , et al. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis. J Hum Genet 2010; 55 (09) 590-599
    CrossrefPubMedGoogle Scholar
  • 12 Chung BH, Drmic I, Marshall CR. , et al. Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes autism spectrum disorder. Eur J Med Genet 2011; 54 (05) e516-e520
    CrossrefPubMedGoogle Scholar
  • 13 Grams SE, Argiropoulos B, Lines M. , et al. Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications. Am J Med Genet A 2016; 170A (04) 967-977
    PubMedGoogle Scholar
  • 14 Morleo M, Iaconis D, Chitayat D. , et al. Disruption of the IQSEC2 transcript in a female with X; autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome. Mol Med Rep 2008; 1 (01) 33-39
    PubMedGoogle Scholar
  • 15 Nizon M, Andrieux J, Rooryck C. , et al. Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature. Am J Med Genet A 2015; 167A (01) 111-122
    PubMedGoogle Scholar
  • 16 Evers C, Mitter D, Strobl-Wildemann G. , et al. Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?. Am J Med Genet A 2015; 167A (03) 553-562
    PubMedGoogle Scholar
  • 17 Smith HA, McNeel DG. The SSX family of cancer-testis antigens as target proteins for tumor therapy. Clin Dev Immunol 2010; 2010: 150591 doi: 10.1155/2010/150591
    PubMedGoogle Scholar