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

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.

Detalles Bibliográficos
Autores principales: Leary, Steven, Porterfield, Harry S., Kotlarek, Jaclyn R., Darbro, Benjamin W., Sidhu, Alpa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935641/
https://www.ncbi.nlm.nih.gov/pubmed/31893066
http://dx.doi.org/10.1002/ccr3.2507
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author Leary, Steven
Porterfield, Harry S.
Kotlarek, Jaclyn R.
Darbro, Benjamin W.
Sidhu, Alpa
author_facet Leary, Steven
Porterfield, Harry S.
Kotlarek, Jaclyn R.
Darbro, Benjamin W.
Sidhu, Alpa
author_sort Leary, Steven
collection PubMed
description 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.
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spelling pubmed-69356412019-12-31 Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature Leary, Steven Porterfield, Harry S. Kotlarek, Jaclyn R. Darbro, Benjamin W. Sidhu, Alpa Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-10-24 /pmc/articles/PMC6935641/ /pubmed/31893066 http://dx.doi.org/10.1002/ccr3.2507 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Leary, Steven
Porterfield, Harry S.
Kotlarek, Jaclyn R.
Darbro, Benjamin W.
Sidhu, Alpa
Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature
title Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature
title_full Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature
title_fullStr Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature
title_full_unstemmed Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature
title_short Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature
title_sort interstitial duplication of 8q22.1‐q23.1‐ a case report and review of the literature
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935641/
https://www.ncbi.nlm.nih.gov/pubmed/31893066
http://dx.doi.org/10.1002/ccr3.2507
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AT darbrobenjaminw interstitialduplicationof8q221q231acasereportandreviewoftheliterature
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