Mosaicism and haemophilia.
Mosaicism may affect the haemophilia phenotype. Well-known instances include chromosomal mosaicism due to aneuploidy and pseudo-mosaicism due to varying patterns of X-chromosome inactivation. Chromosomal mosaicism in a chimera is a potential source of phenotypic variation. Gene mosaicism is commonplace. Its pattern and effect depend on the stage of development at which a mutation occurs. Proven or possible genetic mosaicism is an important consideration when predicting the likelihood of transmission of haemophilia to a future generation.
Kasper
C K
CK
Keck School of Medicine, University of Southern California, and Orthopaedic Hospital, Los Angeles, CA, USA.
Buzin
C H
CH