X‐linked mental retardation with dystonic movements of the hands
- 1 May 1988
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 30 (1-2) , 251-262
- https://doi.org/10.1002/ajmg.1320300127
Abstract
We describe a family with a syndrome of mental retardation, dystonic movements of the hands and dysarthria inherited in an X-linked recessive pattern. DNA marker studies gave a maximum lod score of 2.11 at θ of 0.00 for DXS41 with a likely localization of the gene to Xpter→Xp21.Keywords
This publication has 5 references indexed in Scilit:
- Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14American Journal of Medical Genetics, 1987
- Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques (Part 1 of 5)Cytogenetic and Genome Research, 1985
- A new X‐linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafnessAmerican Journal of Medical Genetics, 1984
- X-linked mental retardation without physical abnormality (Renpenning's syndrome) in sibs in an institution.Journal of Medical Genetics, 1972
- A familial disorder of uric acid metabolism and central nervous system functionThe American Journal of Medicine, 1964