Article
Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.
European journal of medical genetics - 1 Jan 2000
Pauli Silke, Schmidt Thomas, Funke Rudolf, Zoll Barbara, Burfeind Peter, Dybowski Ursula, Shoukier Moneef, Bartels Iris
Abstract excerpt
We report on monochorionic diamniotic male twins discordant for the trisomy 12p syndrome. Trisomy 12p mosaicism with a supernumerary der(12)(pter > q12) was detected in approximately 50% of lymphocytes in both children. Fluorescence in situ hybridisation (FISH) revealed a high grade mosaicism of approximately 77% trisomy 12p cells in buccal smear and 85% in hair follicles in the affected twin, while in the normal...
Topics
- Abnormal Karyotype
- Abnormalities, Multiple
- Cells, Cultured
- Child, Preschool
- Chromosomes, Human, Pair 12
- Comparative Genomic Hybridization
- Genotype
- Humans
- Lymphocytes
- Male