Article
Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8.
American journal of medical genetics. Part A - 1 Jul 2011
Leon Eyby, Jamal Seema M, Zou Ying S, Milunsky Jeff M
Abstract excerpt
Chromosome 8 is the largest autosome in which mosaic trisomy is compatible with life. Constitutional trisomy 8 (T8) is estimated to occur in approximately 0.1% of all recognized pregnancies. The estimated frequency of trisomy 8 mosaicism (T8M), also known as Warkany syndrome, is about 1/25,000 to 50,000 liveborns, and is found to be more prevalent in males than females, 5:1. T8M is known to demonstrate extreme...
Topics
- Child
- Chromosomes, Human, Pair 8
- Fibroblasts
- Humans
- Karyotyping
- Lymphocytes
- Male
- Mosaicism
- Phenotype
- Trisomy
- Uniparental Disomy