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

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.

Detalhes bibliográficos
Principais autores: Steven Leary, Harry S. Porterfield, Jaclyn R. Kotlarek, Benjamin W. Darbro, Alpa Sidhu
Formato: Artigo
Idioma:English
Publicado em: Wiley 2019-12-01
coleção:Clinical Case Reports
Assuntos:
Acesso em linha:https://doi.org/10.1002/ccr3.2507