Aberrant X chromosomal rearrangement through multi-step template switching during sister chromatid formation in a patient with severe hemophilia A.

Mahiru TokoroShogo TamuraNobuaki SuzukiMisaki KakiharaYuna HattoriKoya OdairaSachiko SuzukiAkira TakagiAkira KatsumiFumihiko HayakawaShuichi OkamotoAtsuo SuzukiTakeshi KanematsuTadashi MatsushitaTetsuhito Kojima

Published in: Molecular genetics & genomic medicine (2020)

We identified the aberrant X chromosome with a split F8 due to a multi-step rearrangement in a patient with severe HA.

Keyphrases

case report
early onset
copy number
drug induced
simultaneous determination