Literature DB >> 30105121

An Interesting and Unique Case of 8p23.3p23.1 Deletion and 8p23.1p11.1 Interstitial Duplication Syndrome.

Vivek Kumar1, Shuvendu Roy1, Gaurav Kumar2.   

Abstract

We report an interesting case of a male toddler with global developmental delay, dysmorphic facies, seizures, and acyanotic heart disease. Detailed evaluation revealed absent corpus callosum with large doubly committed ventricular septal defect (VSD) and 8p23.3p23.1 deletion and 8p23.1p11.1 interstitial duplication syndrome. In comparison to similar reports of 8p deletion and inverted duplication syndrome, the uniqueness of this report lies in the fact that the congenital heart defect occurred without the GATA4 gene involvement, and the nervous system involvement was more extensive.

Entities:  

Keywords:  8p23 interstitial duplication; 8p23deletion; GATA4 gene ; cardiac defect

Year:  2018        PMID： 30105121      PMCID： PMC6087472          DOI： 10.1055/s-0038-1637730

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


  11 in total

1.  Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4.

Authors:  Shihui Yu; Xin-Gang Zhou; Stephanie D Fiedler; Sarah J Brawner; Julie M Joyce; Hong-Yu Liu
Journal:  Circ Cardiovasc Genet       Date:  2011-09-20

2.  Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability.

Authors:  M A Jordan; I Marques; J Rosendorff; T J de Ravel
Journal:  Genet Couns       Date:  1998

3.  GATA4 transcription factor is required for ventral morphogenesis and heart tube formation.

Authors:  C T Kuo; E E Morrisey; R Anandappa; K Sigrist; M M Lu; M S Parmacek; C Soudais; J M Leiden
Journal:  Genes Dev       Date:  1997-04-15       Impact factor: 11.361

4.  Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis.

Authors:  J D Molkentin; Q Lin; S A Duncan; E N Olson
Journal:  Genes Dev       Date:  1997-04-15       Impact factor: 11.361

5.  Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses.

Authors:  Adriana Sireteanu; Elena Braha; Roxana Popescu; Mihaela Gramescu; E V Gorduza; Cristina Rusu
Journal:  Rev Med Chir Soc Med Nat Iasi       Date:  2013 Jul-Sep

6.  A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases.

Authors:  K S Reddy
Journal:  Prenat Diagn       Date:  1999-09       Impact factor: 3.050

7.  GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

Authors:  Vidu Garg; Irfan S Kathiriya; Robert Barnes; Marie K Schluterman; Isabelle N King; Cheryl A Butler; Caryn R Rothrock; Reenu S Eapen; Kayoko Hirayama-Yamada; Kunitaka Joo; Rumiko Matsuoka; Jonathan C Cohen; Deepak Srivastava
Journal:  Nature       Date:  2003-07-06       Impact factor: 49.962

8.  8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

Authors:  John C K Barber; Viv K Maloney; Shuwen Huang; David J Bunyan; Lara Cresswell; Esther Kinning; Anna Benson; Tim Cheetham; Jonathan Wyllie; Sally Ann Lynch; Simon Zwolinski; Laura Prescott; Yanick Crow; Rob Morgan; Emma Hobson
Journal:  Eur J Hum Genet       Date:  2007-10-17       Impact factor: 4.246

9.  Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits.

Authors:  Marco T Páez; Toshiyuki Yamamoto; Ken-ichi Hayashi; Toshiyuki Yasuda; Naoki Harada; Naomichi Matsumoto; Kenji Kurosawa; Yoshiyuki Furutani; Shuichi Asakawa; Nobuyoshi Shimizu; Rumiko Matsuoka
Journal:  Am J Med Genet A       Date:  2008-05-01       Impact factor: 2.802

10.  Mosaic trisomy 8 detected by fibroblasts cultured of skin.

Authors:  Gustavo Giraldo; Ana M Gómez; Lina Mora; Fernando Suarez-Obando; Olga Moreno
Journal:  Colomb Med (Cali)       Date:  2016-06-30
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