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CC BY-NC-ND 4.0 · AJP Rep 2023; 13(04): e53-e60
DOI: 10.1055/s-0043-1774728
Case Report

Double Aneuploidy of Down Syndrome (Trisomy 21) and Jacobs Syndrome (Trisomy XYY) with Complete Tracheal Rings Deformity: Case Report and Literature Review

Omoloro Adeleke
1   Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, LeBonheur Children's Hospital, Memphis, Tennessee
,
Hussein Elmufti
1   Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, LeBonheur Children's Hospital, Memphis, Tennessee
,
Jie Zhang
2   Division of Pediatric Pathology, Department of Pathology, University of Tennessee Health Science Center, LeBonheur Children's Hospital, Memphis, Tennessee
,
Bhuvaneshwari Jagadesan
1   Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, LeBonheur Children's Hospital, Memphis, Tennessee
,
Mimily Harsono 
1   Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Tennessee Health Science Center, LeBonheur Children's Hospital, Memphis, Tennessee
› Author Affiliations Funding None.
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Abstract

Down syndrome (DS, trisomy 21) with an extra copy of chromosome 21 is one of the most common aneuploidies in humans. Jacobs syndrome or XYY syndrome (trisomy XYY) with an extra copy of sex chromosome Y is a rare sex chromosome trisomy in males. Double aneuploidy (DA) with an extra copy of chromosome 21 and sex chromosome Y is an extremely rare occurrence. Most trisomy 21 results from nondisjunction during maternal oocyte meiosis-I, whereas trisomy XYY is results from nondisjunction during paternal spermatocyte meiosis-I. We present a case of natural conception premature newborn of 30.4 weeks gestational age who had a DS facial phenotype with extensive syndactyly on both hands and feet. Other multisystem congenital anomalies were discovered, including mal-aligned perimembranous ventricular septal defect, bicuspid aortic valve, Dandy–Walker malformation's tetra-ventriculomegaly, and a rare complete tracheal rings deformity (CTRD) with trachea stenosis. Prenatal amniocentesis and postnatal chromosomal karyotyping analysis detected 48, XYY, + 21 nontranslocation trisomy 21, and free-lying Y chromosome without translocation. The existence of DA is rarely reported in literature reviews. In this review, we will discuss the characteristics of DS and Jacobs syndrome as well as the associated multiorgan malformation including the rare lethal CTRD.

Keywords

aneuploidy - complete tracheal rings defect - double aneuploidy - Down syndrome - extra chromosome - Jacobs syndrome - trisomy 21 - trisomy XYY - XYY syndrome

Informed Consent

The case report study, which included the photographs, has received IRB approval from the University of Tennessee Health Science Center and LeBonheur Children's Hospital to conduct the study. Patient's personal information was deidentified in the manuscript article and pictures.


Authors' Contributions

O.A. was involved in diagnosing, patient care, literature review, obtaining IRB approval, writing the manuscript first draft, manuscript revision, manuscript edition, and approval of the final manuscript as submitted. H.E. was involved in the manuscript edition and approval of the final manuscript as submitted. J.Z. was involved in literature review, pathologic exam, pathologic photograph (autopsy), manuscript edition, and approval of the final manuscript as submitted. B.J was involved in diagnosing, patient care, literature review, and approval of the final manuscript as submitted. M.H. was involved in diagnosing, patient care, literature review, critical review, obtaining IRB approval, manuscript revision, manuscript edition, and approval of the final manuscript as submitted.




Publication History

Received: 08 June 2023

Accepted: 28 July 2023

Article published online:
06 November 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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