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.

Bibliographic Details
Main Authors: Steven Leary, Harry S. Porterfield, Jaclyn R. Kotlarek, Benjamin W. Darbro, Alpa Sidhu
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Clinical Case Reports
Subjects:
Online Access:https://doi.org/10.1002/ccr3.2507