Article
Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.
American journal of medical genetics - 13 Mar 2000
Barbi G, Kennerknecht I, Wöhr G, Avramopoulos D, Karadima G, Petersen M B
Abstract excerpt
We report on a mentally retarded child with multiple minor anomalies and an unusually rearranged chromosome 21. This der(21) chromosome has a deletion of 21p and of proximal 21q, whereas the main portion of 21q is duplicated leading to a mirror-symmetric appearance with the mirror axis at the breakpoint. The centromere is only characterized by a secondary constriction (with a centromeric index of a G chromosome)...
Topics
- Abnormalities, Multiple
- Centromere
- Child, Preschool
- Chromosome Banding
- Chromosome Painting
- Chromosomes, Human, Pair 21
- Down Syndrome
- Facies
- Gene Deletion
- Gene Library