Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9

Sarah M. Beaudry; Oleg Shchelochkov; Pamela Trapane; Benjamin Darbro; Jaime M. W. Nagy

doi:10.1002/ccr3.4031

Clinical Case Reports (Apr 2021)

Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9

Sarah M. Beaudry,
Oleg Shchelochkov,
Pamela Trapane,
Benjamin Darbro,
Jaime M. W. Nagy

Affiliations

Sarah M. Beaudry: Division of Medical Genetics and Genomics Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City IA USA
Oleg Shchelochkov: Medical Genomics and Metabolic Genetics Branch National Human Genome Research InstituteNational Institutes of Health Bethesda MD USA
Pamela Trapane: Division of Pediatric Genetics Department of Pediatrics UF College of Medicine–Jacksonville Jacksonville FL USA
Benjamin Darbro: Division of Medical Genetics and Genomics Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City IA USA
Jaime M. W. Nagy: Division of Medical Genetics and Genomics Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City IA USA

DOI: https://doi.org/10.1002/ccr3.4031
Journal volume & issue: Vol. 9, no. 4
pp. 2340 – 2344

Abstract

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Abstract Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed to define the phenotypic spectrum. It also highlights the importance of chromosome analysis to identify structural abnormalities that result in aneuploidy.

Published in Clinical Case Reports

ISSN: 2050-0904 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Medicine (General)
Website: https://onlinelibrary.wiley.com/journal/20500904

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Abstract

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