J Pediatr Genet 2018; 07(03): 125-129
DOI: 10.1055/s-0038-1637730
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Vivek Kumar
1   Department of Pediatrics, Army Hospital R&R, New Delhi, Delhi, India
Shuvendu Roy
1   Department of Pediatrics, Army Hospital R&R, New Delhi, Delhi, India
Gaurav Kumar
2   Department of Cardiothoracic Surgery, Army Hospital, R&R, New Delhi, Delhi, India
› Author Affiliations
Further Information

Publication History

16 July 2017

12 February 2018

Publication Date:
04 April 2018 (online)


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.

Patient's Consent

The patient's consent was obtained for the study.

  • References

  • 1 Páez MT, Yamamoto T, Hayashi K. , et al. Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits. Am J Med Genet A 2008; 146A (09) 1158-1165
  • 2 Reddy KS. A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases. Prenat Diagn 1999; 19 (09) 868-872
  • 3 Molkentin JD, Lin Q, Duncan SA, Olson EN. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev 1997; 11 (08) 1061-1072
  • 4 Kuo CT, Morrisey EE, Anandappa R. , et al. GATA4 transcription factor is required for ventral morphogenesis and heart tube formation. Genes Dev 1997; 11 (08) 1048-1060
  • 5 Garg V, Kathiriya IS, Barnes R. , et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003; 424 (6947): 443-447
  • 6 Sireteanu A, Braha E, Popescu R, Gramescu M, Gorduza EV, Rusu C. Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses. Rev Med Chir Soc Med Nat Iasi 2013; 117 (03) 731-734
  • 7 Jordan MA, Marques I, Rosendorff J, de Ravel TJ. Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability. Genet Couns 1998; 9 (02) 139-146
  • 8 Yu S, Zhou XG, Fiedler SD, Brawner SJ, Joyce JM, Liu HY. Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4. Circ Cardiovasc Genet 2011; 4 (06) 620-625
  • 9 Barber JC, Maloney VK, Huang S. , et al. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet 2008; 16 (01) 18-27
  • 10 Barber JC, James RS, Patch C, Temple IK. Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8. Am J Med Genet 1994; 50 (03) 296-299
  • 11 Giraldo G, Gómez AM, Mora L, Suarez-Obando F, Moreno O. Mosaic trisomy 8 detected by fibroblasts cultured of skin. Colomb Med (Cali) 2016; 47 (02) 100-104