Three cases of trisomy 13 mosaicism and a review of the literature

Abstract excerpt

We describe three cases of trisomy 13 mosaicism and review the literature. The phenotype ranges from a severe form similar to Patau syndrome, through to physical and mental normality. This range presumably reflects the proportion and tissue distribution of the trisomic cell line. The percentage of trisomic cells in lymphocytes correlates poorly with the observed phenotype.

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genomic variations and chromosomal abnormalities
• Share to Parvovirus B19 Infection Studies
• Share to Prenatal Screening and Diagnostics