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Your search keyword '"Benjamin W Darbro"' showing total 2 results
Start Over Author "Benjamin W Darbro" Journal clinical case reports
2 results on '"Benjamin W Darbro"'

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

Author

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

Subjects
Medicine (General), Aneuploidy, Mosaic (geodemography), Case Report, Variable presentation, Case Reports, 030204 cardiovascular system & hematology, long‐term survival, Trisomy 9, 03 medical and health sciences, 0302 clinical medicine, Isodicentric Chromosome, R5-920, pseudo‐isodicentric chromosome 9, Chromosome analysis, Long term survival, medicine, Genetics, business.industry, mosaic trisomy 9, General Medicine, medicine.disease, 030220 oncology & carcinogenesis, Medicine, business
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
2021

2. Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature

Author

Steven Leary, Harry S. Porterfield, Alpa Sidhu, Jaclyn R. Kotlarek, and Benjamin W. Darbro

Subjects
lcsh:R5-920, business.industry, lcsh:R, lcsh:Medicine, Case Report, Karyotype, Case Reports, General Medicine, Computational biology, Interstitial duplication, 030204 cardiovascular system & hematology, Recurrence risk, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Gene duplication, Medicine, genetics, Copy-number variation, business, lcsh:Medicine (General)
Abstract

This report highlights the clinical features seen in duplication of 8q22.1q23.1 inherited from balanced father. It stresses the importance of obtaining a karyotype to identify the location of a large copy number variant for accurate recurrence risk estimation.

Published
2019

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