Article
Down's syndrome and fragile-X syndrome in a single patient.
Journal of mental deficiency research - 1 Feb 1990
Collacott R A, Duckett D P, Mathews D, Warrington J S, Young I D
Abstract excerpt
A profoundly mentally handicapped patient is described with the karyotype 47,X, fra (X) (q27), + 21. Her phenotype demonstrates features of both Down's Syndrome and fragile-X syndrome. The authors believe only one other similar case has been described.
Topics
- Adult
- Down Syndrome
- Female
- Fragile X Syndrome
- Humans
- Pedigree
- Phenotype
- Sex Chromosome Aberrations