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J Pediatr Genet 2022; 11(04): 324-332
DOI: 10.1055/s-0040-1721136
Case Report

Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature

Hoang H. Nguyen
1   Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, United States
2   Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, United States
,
Krishna Kishore Umapathi
1   Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, United States
,
John W. Bokowski
1   Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, United States
,
Kelsey Hogan
1   Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, United States
,
Alexa Hart
1   Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, United States
,
Mindy H. Li 
1   Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, United States
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Abstract

Trisomy 16 is the most common autosomal trisomy found in spontaneous abortions with mosaic versions seen in survivors. However, surviving children have multiple congenital defects and are at risk of growth and developmental delay. We report an additional case of mosaic trisomy 16 diagnosed by amniocentesis and confirmed after birth. Our patient is the first documented case of living mosaic trisomy 16 with the malformation constellation of lung agenesis, left pulmonary artery agenesis, congenital heart defects, and ipsilateral radial ray and limb abnormalities, expanding the phenotype of this rare condition. Additionally, this individual's unique combination of lung and cardiac defects caused morbidities that were challenging to manage and complicated family counseling as well.

Keywords

mosaic trisomy 16 - left lung agenesis - pulmonary artery stenosis

Authors' Contributions

K.K.U. and H.H.N. drafted the initial manuscript. J.W.B., A.H., and K.H. reviewed the initial manuscript and helped in the revision of the manuscript. M.H.L. reviewed the final manuscript and made appropriate revisions to the manuscript. All authors contributed to the writing of this manuscript.


Note

Written informed consent was obtained from the patient's parents for publication of this report and any accompanying images.




Publication History

Received: 20 August 2020

Accepted: 08 October 2020

Article published online:
23 November 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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