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

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

Journal article

Open access

Peer reviewed

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

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

Clinical case reports, Vol.9(4), pp.2340-2344

04/01/2021

DOI: 10.1002/ccr3.4031

PMCID: PMC8077311

PMID: 33936691

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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.

General & Internal Medicine

Life Sciences & Biomedicine

Medicine, General & Internal

Science & Technology

Details

Title: Subtitle: Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9
Creators: Sarah M. Beaudry - University of Iowa Hospitals and Clinics
Oleg Shchelochkov - National Human Genome Research Institute
Pamela Trapane - Florida College
Benjamin Darbro - University of Iowa
Jaime M. W. Nagy - University of Iowa Hospitals and Clinics
Resource Type: Journal article
Publication Details: Clinical case reports, Vol.9(4), pp.2340-2344
DOI: 10.1002/ccr3.4031
PMID: 33936691
PMCID: PMC8077311
NLM abbreviation: Clin Case Rep
ISSN: 2050-0904
eISSN: 2050-0904
Publisher: Wiley
Number of pages: 5
Language: English
Date published: 04/01/2021
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984354049302771

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