Mosaic variegated aneuploidy with multiple congenital abnormalities: Homozygosity for total premature chromatid separation trait

Abstract excerpt

Separation of chromatids of all mitotic chromosomes, here called total premature chromatid separation (total PCS), was observed in 67 to 87.5% of repeated cultures of peripheral blood lymphocytes from two unrelated infants. Also noted was a variety of mosaic aneuploidies, especially trisomies, double trisomies, and monosomies, to be called mosaic variegated aneuploidy. The infants both showed severe pre- and...

Topics

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

• Share to Genomic variations and chromosomal abnormalities
• Share to Pediatric Hepatobiliary Diseases and Treatments
• Share to Prenatal Screening and Diagnostics