Article
Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH).
American journal of medical genetics - 15 Mar 1993
Petty E M, Gibson L H, Breg W R, Burns J P, Yang-Feng T L
Abstract excerpt
We describe a girl with some manifestations of the dup (9p) syndrome. High-resolution Giemsa-banded karyotype of her lymphocytes documented that she was mosaic with 80% of cells being 46,XX, and 20% 46,XX,-20, + der(20;?) (p13;?). The additional material on 20p could not be defined clearly by hig...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Banding
- Chromosomes, Human, Pair 9
- Facial Bones
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Mosaicism
- Musculoskeletal Abnormalities
- Phenotype