Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9

Clin Case Rep. 2021 Mar 9;9(4):2340-2344. doi: 10.1002/ccr3.4031. eCollection 2021 Apr.

Abstract

Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed to define the phenotypic spectrum. It also highlights the importance of chromosome analysis to identify structural abnormalities that result in aneuploidy.

Keywords: long‐term survival; mosaic trisomy 9; pseudo‐isodicentric chromosome 9.

Publication types

  • Case Reports