Further delineation of X-linked mental retardation
- 1 October 1981
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 58 (4), 366-372
- https://doi.org/10.1007/bf00282817
Abstract
Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological charateristics, such as lop ears, large testes, and perseverative speech, are present in affected males in all six families. Preliminary analysis of the psychological data also shows that males with and without marker expression cannot be differentiated with certainty. On this basis we suggest that there is a type of X-linked mental retardation with many phenotypic features of marker-X mental retardation but without expression of the X chromosome fragile site.This publication has 26 references indexed in Scilit:
- CHROMOSOME BANDING REQUIRED FOR STUDIES ON X-LINKED MENTAL RETARDATIONThe Lancet, 1981
- X-linked mental retardation, macro-orchidism, and the Xq27 fragile siteThe Journal of Pediatrics, 1980
- Familial X-linked mental retardation with an X chromosome abnormality and macro-orchidism.Journal of Medical Genetics, 1980
- Familial X-linked mental retardation with a marker X chromosome and its relationship to macro-orchidismClinical Genetics, 1980
- Developmental Dyspraxia in a Family with X‐linked Mental Retardation (Renpenning Syndrome)Developmental Medicine and Child Neurology, 1980
- X‐linked mental retardation: Renpenning revisitedAmerican Journal of Medical Genetics, 1980
- Significance of phenotypic and chromosomal abnormalities in X‐linked mental retardation (Martin‐Bell or Renpenning syndrome)American Journal of Medical Genetics, 1980
- Fragile sites in human chromosomes II: Demonstration of the fragile site Xq27 in carriers of X‐linked mental retardationAmerican Journal of Medical Genetics, 1980
- RENPENNING'S SYNDROMEThe Lancet, 1974
- X-linked mental retardation. Study of a large kindred with 20 affected membersThe Journal of Pediatrics, 1965