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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)

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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.

Keywords

8p23deletion - 8p23 interstitial duplication - cardiac defect - GATA4 gene

Patient's Consent

The patient's consent was obtained for the study.


 

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