Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology
| Autor: | Patsalis, Philippos C., Sismani, Carolina, Hadjimarcou, Michael I., Rose, Nancy C., Stylianidou, Goula, Koukoulli, R., Anastasiadou, Violetta C., Constantinou-Deltas, Constantinos D., Middleton, Lefkos T. |
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| Přispěvatelé: | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] |
| Rok vydání: | 1997 |
| Předmět: |
Adult
southern blotting Adolescent polymerase chain reaction Chromosomes Human Pair 22 Chromosome Disorders dna Translocation Genetic Cytogenetics male Mental Retardation mental deficiency Humans Point Mutation human Chromosome Aberrations Chromosomal abnormalities human cell Chromosomes Human Pair 11 Mental retardation of unknown etiology article chromosome analysis Infant genetic screening major clinical study Blotting Southern female Child Preschool Karyotyping chromosome aberration cyprus Fragile X syndrome |
| Zdroj: | Genetic Counseling Genet.Couns. |
| Popis: | The aim of this program was to investigate the patients with Mental Retardation Of Unknown Etiology (MROUE), on the island of Cyprus. The MROUE patients were examined cytogenetically for gross chromosomal abnormalities, and by molecular methods for the Fragile X syndrome pathology. Specialized physicians examined all institutionalized or non institutionalized patients throughout Cyprus. Cytogenetic analysis was carried out on 105 individuals, six of which showed various chromosomal aberrations. PCR and Southern blot analysis were carried out on 170 patients referred for exclusion of the Fragile X syndrome. Three patients had positive findings. Although the number of cases elucidated with this general approach was not spectacular, it allowed the resolution of a few clinically equivocal cases, to the satisfaction of the clinicians and, most importantly, the relatives involved. We believe that such screening programs should continue until all cases are thouroughly examined, thus providing definite genetic counseling and psychological support, at least in those cases that are clearly resolved. Equally important is the prospect for prevention through prenatal diagnostic programs, that are already available for such conditions. 8 1 6 Cited By :4 |
| Databáze: | OpenAIRE |
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