Literature DB >> 29707408

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

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

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.

Entities:  

Keywords:  duplication syndrome; intellectual disability; microarray analysis

Year:  2017        PMID： 29707408      PMCID： PMC5916805          DOI： 10.1055/s-0037-1612598

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  17 in total

1.  Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.

Authors:  Shozo Honda; Shin Hayashi; Issei Imoto; Jun Toyama; Hitoshi Okazawa; Eiji Nakagawa; Yu-Ichi Goto; Johji Inazawa
Journal:  J Hum Genet       Date:  2010-07-08       Impact factor: 3.172

Review 2.  Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.

Authors:  Pawel Stankiewicz; Arthur L Beaudet
Journal:  Curr Opin Genet Dev       Date:  2007-04-30       Impact factor: 5.578

3.  Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.

Authors:  Brian H Y Chung; Irene Drmic; Christian R Marshall; Daria Grafodatskaya; Melissa Carter; Bridget A Fernandez; Rosanna Weksberg; Wendy Roberts; Stephen W Scherer
Journal:  Eur J Med Genet       Date:  2011-06-29       Impact factor: 2.708

4.  Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.

Authors:  Sarah E Grams; Bob Argiropoulos; Matthew Lines; Pranesh Chakraborty; Jean Mcgowan-Jordan; Michael T Geraghty; Marilyn Tsang; Marthand Eswara; Kamer Tezcan; Kelly L Adams; Leesa Linck; Patricia Himes; Dana Kostiner; Dina J Zand; Heather Stalker; Daniel J Driscoll; Taosheng Huang; Jill A Rosenfeld; Xu Li; Emily Chen
Journal:  Am J Med Genet A       Date:  2015-12-22       Impact factor: 2.802

5.  Autism in two females with duplications involving Xp11.22-p11.23.

Authors:  Anna C Edens; Michael J Lyons; Reyna M Duron; Barbara R Dupont; Kenton R Holden
Journal:  Dev Med Child Neurol       Date:  2011-03-21       Impact factor: 5.449

6.  Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.

Authors:  M F Portnoï; N Bouayed-Abdelmoula; M Mirc; R Zemni; H Castaing; J Stephann; A Ardalan; F Vialard; M Nouchy; P Daoud; J Chelly; J L Taillemite
Journal:  Clin Genet       Date:  2000-08       Impact factor: 4.438

7.  Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.

Authors:  Cíntia Barros Santos-Rebouças; Luciana Guedes de Almeida; Stefanie Belet; Suely Rodrigues Dos Santos; Márcia Gonçalves Ribeiro; Antônio Francisco Alves da Silva; Enrique Medina-Acosta; Jussara Mendonça Dos Santos; Andressa Pereira Gonçalves; Paulo Roberto Valle Bahia; Márcia Mattos Gonçalves Pimentel; Guy Froyen
Journal:  J Hum Genet       Date:  2015-02-05       Impact factor: 3.172

8.  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.

Authors:  Roberto Giorda; M Clara Bonaglia; Silvana Beri; Marco Fichera; Francesca Novara; Pamela Magini; Jill Urquhart; Freddie H Sharkey; Claudio Zucca; Rita Grasso; Susan Marelli; Lucia Castiglia; Daniela Di Benedetto; Sebastiano A Musumeci; Girolamo A Vitello; Pinella Failla; Santina Reitano; Emanuela Avola; Francesca Bisulli; Paolo Tinuper; Massimo Mastrangelo; Isabella Fiocchi; Luigina Spaccini; Claudia Torniero; Elena Fontana; Sally Ann Lynch; Jill Clayton-Smith; Graeme Black; Philippe Jonveaux; Bruno Leheup; Marco Seri; Corrado Romano; Bernardo dalla Bernardina; Orsetta Zuffardi
Journal:  Am J Hum Genet       Date:  2009-08-27       Impact factor: 11.025

9.  The SSX gene family: characterization of 9 complete genes.

Authors:  Ali O Güre; Isaac J Wei; Lloyd J Old; Yao-Tseng Chen
Journal:  Int J Cancer       Date:  2002-10-10       Impact factor: 7.396

10.  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.

Authors:  Manuela Morleo; Daniela Iaconis; David Chitayat; Ivana Peluso; Rosalia Marzella; Alessandra Renieri; Francesca Mari; Brunella Franco
Journal:  Mol Med Rep       Date:  2008 Jan-Feb       Impact factor: 2.952
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  2 in total

1.  Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability.

Authors:  Pinar Arican; Nihal Olgac Dundar; Berk Ozyilmaz; Dilek Cavusoglu; Pinar Gencpinar; Kadri Murat Erdogan; Merve Saka Guvenc
Journal:  J Pediatr Genet       Date:  2018-12-14

2.  Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.

Authors:  Márta Czakó; Ágnes Till; Judith Zima; Anna Zsigmond; András Szabó; Anita Maász; Béla Melegh; Kinga Hadzsiev
Journal:  Front Genet       Date:  2021-04-14       Impact factor: 4.599
  2 in total

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