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J Pediatr Genet 2021; 10(04): 326-330
DOI: 10.1055/s-0040-1714362
Case Report

Partial Trisomy 16q21-q24.3 with Novel Cardiac Manifestation of Left Ventricular Noncompaction Cardiomyopathy: A Case Report

Aradhana Dwivedi
1   Department of Medical Genetics, Army Hospital (Research and Referral), New Delhi, India
,
Vivek Kumar
2   Department of Pediatric Cardiology, Army Hospital (Research and Referral), New Delhi, India
,
H. Ravi Ramamurthy
2   Department of Pediatric Cardiology, Army Hospital (Research and Referral), New Delhi, India
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Abstract

Partial trisomy 16q is most often a consequence of malsegregation from a balanced parental translocation involving chromosome 16q. It is characterized by nonspecific craniofacial dysmorphic features, hypotonia, developmental delay, psychomotor retardation, and systemic manifestations of cardiac defect, renal abnormalities, and lung abnormalities. The survival of these patients depends upon the extent and severity of the organs involved. The present literature was replete with cases of partial trisomy 16q having structural cardiac defects. However, in the present report we described a novel finding of myocardial disease in the form of left ventricular noncompaction (LVNC) cardiomyopathy associated with this genetic condition.

Keywords

partial trisomy 16 - left ventricular noncompaction - cardiomyopathy


Publication History

Received: 21 May 2020

Accepted: 07 June 2020

Article published online:
02 September 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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