| Literature DB >> 2139133 |
R A Collacott1, D P Duckett, D Mathews, J S Warrington, I D Young.
Abstract
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.Entities:
Mesh：
Year: 1990 PMID： 2139133 DOI： 10.1111/j.1365-2788.1990.tb01518.x
Source DB: PubMed Journal: J Ment Defic Res ISSN： 0022-264X