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
Descripción
Sumario: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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