Clinical, cytogenetic, and molecular analysis of three families with FRAXE
Autor: | G A Flynn, E. Green, A J Barnicoat, Jeremy Turk, Q Wang, Mark C. Hirst, V. J. Buckle, Martin Bobrow, Kay E. Davies, Christopher G. Mathew |
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Rok vydání: | 1997 |
Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty X Chromosome Pedigree chart Locus (genetics) Biology Intellectual Disability Genetics medicine Humans Genetic Testing Cells Cultured In Situ Hybridization Genetics (clinical) X chromosome Genetic testing medicine.diagnostic_test Chromosome Fragile Sites Chromosome Fragility Chromosomal fragile site Cytogenetics DNA medicine.disease Pedigree Fragile X syndrome Chromosome Fragile Site Child Preschool Fragile X Syndrome Mutation Female Microsatellite Repeats Research Article |
Zdroj: | Scopus-Elsevier |
ISSN: | 1468-6244 |
Popis: | The probe StB12.3 has been used to screen the FMR-1 gene in 42 pedigrees with a distal Xq fragile site for expansion of the CCG repeat and aberrant methylation of the FRAXA locus. Four families did not have a FRAXA mutation and were investigated further. Fluorescent in situ hybridisation (FISH) and molecular analyses showed that three of these families had an expansion at FRAXE and one at FRAXE. Detailed psychiatric, psychological, and behavioural features of three families with FRAXE identified in the study are presented. All the males who expressed FRAXE had a large methylated CCG repeat at FRAXF. All males with the mutation had some degree of mental handicap. This study illustrates the need for the FRAXE phenotype to be defined further. |
Databáze: | OpenAIRE |
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