Martin‐Bell syndrome in Greece, with report of another 47,XXY fragile X patient
- 1 December 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 31 (4) , 735-739
- https://doi.org/10.1002/ajmg.1320310403
Abstract
A cytogenetic investigation was carried out among 200 mentally retarded boys in Greece for the detection of the fragile X [fra(X)] syndrome. Thirteen patients were found to carry fra(X) (6.5%). Of those, six boys had a history of familial X‐linked mental retardation, two had the phenotype of the Martin‐Bell syndrome, four had only mental retardation of unknown etiology, and one was a mentally retarded patient with Klinefelter syndrome. The remaining 187 boys were fra(X) negative. Our findings emphasize the importance of early identification of this syndrome in the diagnosis and prevention, through proper genetic counselling, of mental retardation.Keywords
This publication has 12 references indexed in Scilit:
- Fragile X syndromeThe Journal of Pediatrics, 1987
- The frequency of the fragile X chromosome among schoolchildren in Coventry.Journal of Medical Genetics, 1986
- Frequency of the fragile X syndrome in Japanese mentally retarded malesHuman Genetics, 1986
- Klinefelter syndrome and two fragile X chromosomesClinical Genetics, 1984
- Fragile X in a Survey of 75 Autistic MalesNew England Journal of Medicine, 1984
- International workshop on the fragile X and X‐linked mental retardationAmerican Journal of Medical Genetics, 1984
- Fragile X syndrome in mildly mentally retarded children in a Northern Swedish county. A prevalence studyClinical Genetics, 1983
- Screening for fra(X)(q) in a population of mentally retarded malesHuman Genetics, 1983
- Replication pattern in XXY cells with fra(X)Human Genetics, 1982
- Fragile Sites on Human Chromosomes: Demonstration of Their Dependence on the Type of Tissue Culture MediumScience, 1977