Liveborn trisomy 22: a case report.
- 1Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, United States.
- 2Division of Medical Genetics & Metabolism, University of Texas Medical Branch, Galveston, TX, United States.
- 3Department of Pathology and Laboratory Medicine, University of Texas San Antonio, San Antonio, TX, United States.
Abstract
Trisomy 22 is identified in 2%-5% of spontaneous abortions across various populations, making it the second most common trisomy in spontaneous abortions. Liveborn patients with complete trisomy 22 are rare and present with variable clinical findings. A detailed clinical report of a term female neonate with complete trisomy 22 was compiled after obtaining informed consent from her mother. The neonate was born via spontaneous vaginal delivery, and resuscitation included intubation after multiple attempts. She presented with multiple congenital anomalies, including a single umbilical artery, microcephaly, dysmorphic facial features, absent red reflex, corneal haze, irregular pupil, microcornea, imperforated anus with rectovestibular fistula, bilateral clinodactyly of the fifth digits, and bilateral distal and proximal transverse palmar creases running parallel to each other. An echocardiogram showed Tetralogy of Fallot and hypoplasia of the transverse aortic arch. Abdominal ultrasound revealed small kidneys. The electroencephalogram showed diffuse cerebral dysfunction. Head ultrasound indicated absence of the septum pellucidum. Additional complications included pneumothorax, metabolic disturbances, sepsis, and persistent thrombocytopenia. The neonate's condition deteriorated, leading to demise on the seventh day of life. Chromosome analysis confirmed 47,XX,+22. : This case report contributes to the limited literature on complete trisomy 22, highlighting its prognosis, clinical heterogeneity, and management challenges. The constellation of anomalies observed underscores the importance of interdisciplinary collaboration and adaptability in providing optimal care. By better understanding its clinical presentation, we hope to facilitate early recognition, appropriate management, and counseling.
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BibTeX
@article{baglivo2026liveborn,
title = {{Liveborn trisomy 22: a case report.}},
author = {Sofia Jares Baglivo and Megan P Morand and Gopalrao V N Velagaleti and Sunil K Jain and Erin Cooney},
journal = {Frontiers in pediatrics},
year = {2026},
month = oct,
doi = {10.3389/fped.2026.1920011},
url = {https://europepmc.org/article/MED/42952796},
note = {CC BY},
}
RIS
TY - JOUR
TI - Liveborn trisomy 22: a case report.
AU - Sofia Jares Baglivo
AU - Megan P Morand
AU - Gopalrao V N Velagaleti
AU - Sunil K Jain
AU - Erin Cooney
PY - 2026
DA - 2026/10/14
JO - Frontiers in pediatrics
DO - 10.3389/fped.2026.1920011
UR - https://europepmc.org/article/MED/42952796
AB - Trisomy 22 is identified in 2%-5% of spontaneous abortions across various populations, making it the second most common trisomy in spontaneous abortions. Liveborn patients with complete trisomy 22 are rare and present with variable clinical findings. A detailed clinical report of a term female neonate with complete trisomy 22 was compiled after obtaining informed consent from her mother. The neonate was born via spontaneous vaginal delivery, and resuscitation included intubation after multiple attempts. She presented with multiple congenital anomalies, including a single umbilical artery, microcephaly, dysmorphic facial features, absent red reflex, corneal haze, irregular pupil, microcornea, imperforated anus with rectovestibular fistula, bilateral clinodactyly of the fifth digits, and bilateral distal and proximal transverse palmar creases running parallel to each other. An echocardiogram showed Tetralogy of Fallot and hypoplasia of the transverse aortic arch. Abdominal ultrasound revealed small kidneys. The electroencephalogram showed diffuse cerebral dysfunction. Head ultrasound indicated absence of the septum pellucidum. Additional complications included pneumothorax, metabolic disturbances, sepsis, and persistent thrombocytopenia. The neonate's condition deteriorated, leading to demise on the seventh day of life. Chromosome analysis confirmed 47,XX,+22. : This case report contributes to the limited literature on complete trisomy 22, highlighting its prognosis, clinical heterogeneity, and management challenges. The constellation of anomalies observed underscores the importance of interdisciplinary collaboration and adaptability in providing optimal care. By better understanding its clinical presentation, we hope to facilitate early recognition, appropriate management, and counseling.
SN - 2296-2360
ER -