Article
No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.
American journal of human genetics - 1 Dec 1992
Pangalos C, Théophile D, Sinet P M, Marks A, Stamboulieh-Abazis D, Chettouh Z, Prieur M, Verellen C, Rethoré M O, Lejeune J
Abstract excerpt
Three Down syndrome patients for whom karyotypic analysis showed a "mirror" (reverse tandem) duplication of chromosome 21 were studied by phenotypic, cytogenetic, and molecular methods. On high-resolution R-banding analysis performed in two cases, the size of the fusion 21q22.3 band was apparently less than twice the size of the normal 21q22.3, suggesting a partial deletion of distal 21q. The evaluation of eight...
Topics
- Adult
- Child
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 21
- Down Syndrome
- Female
- Genotype
- Humans
- Infant, Newborn
- Karyotyping