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Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature
Journal article   Open access   Peer reviewed

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 and Alpa Sidhu
Clinical case reports, Vol.7(12), pp.2393-2397
10/24/2019
DOI: 10.1002/ccr3.2507
PMCID: PMC6935641
PMID: 31893066
url
https://doi.org/10.1002/ccr3.2507View
Published (Version of record) Open Access

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. 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.
Case Report Case Reports genetics

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