Article
Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21.
Human genetics - 1 Dec 1991
Blouin J L, Aurias A, Créau-Goldberg N, Apiou F, Alcaide-Loridan C, Bruel A, Prieur M, Kraus J, Delabar J M, Sinet P M
Abstract excerpt
We have characterised by cytogenetic and molecular analysis a de novo tandem duplication of chromosome 21. High resolution chromosome examination of lymphocytes revealed the following karyotype in 90% of the cells: 46,XY,dir dup (21)(pter----q22.300::q11.205----qter). Of these cells, 10% showed a...
Topics
- Alleles
- Child
- Chromosome Aberrations
- Chromosomes, Human, Pair 21
- DNA Restriction Enzymes
- Electrophoresis, Gel, Pulsed-Field
- Female
- Humans
- Male
- Mosaicism
- Nucleic Acid Hybridization
- Oogenesis
- Polymorphism, Restriction Fragment Length
- Recombination, Genetic