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

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

doi:10.1002/ccr3.2507

Clinical Case Reports (Dec 2019)

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

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

Affiliations

Steven Leary: Carver College of Medicine University of Iowa Hospitals and Clinics Iowa City IA USA
Harry S. Porterfield: Department of Pathology University of Iowa Hospitals and Clinics Iowa City IA USA
Jaclyn R. Kotlarek: Division of Medical Genetics and Genomics The Stead Family Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City IA USA
Benjamin W. Darbro: Division of Medical Genetics and Genomics The Stead Family Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City IA USA
Alpa Sidhu: Division of Medical Genetics and Genomics The Stead Family Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City IA USA

DOI: https://doi.org/10.1002/ccr3.2507
Journal volume & issue: Vol. 7, no. 12
pp. 2393 – 2397

Abstract

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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.

genetics

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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