Monozygotic twin brothers with the fragile X syndrome : different CGG repeats and different mental capacities
- Author
- HELDERMAN-VAN DEN ENDEN, A. T. J. M1 ; MAASWINKEL-MOOIJ, P. D2 ; HOOGENDOORN, E1 3 ; WILLEMSEN, R4 ; MAAT-KIEVIT, J. A1 4 ; LOSEKOOT, M1 3 ; OOSTRA, B. A4
[1] Department of Clinical Genetics, K5-R, Leiden, University Medical Centre, PO Box 9600, 2300 RC Leiden, Netherlands
[2] Department of Paediatrics, Leiden University Medical Centre, 2300 RC Leiden, Netherlands
[3] MGC Department of Human Genetics, Leiden University Medical Centre, 2300 RC Leiden, Netherlands
[4] MGC Department of Clinical Genetics, Erasmus University, Rotterdam, Netherlands - Source
Journal of medical genetics. 1999, Vol 36, Num 3, pp 253-257 ; ref : 18 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Arriération mentale Caractère lié au sexe Chromosome X Déterminisme génétique Enfant Etude cas Etude familiale Fragilité chromosomique Jumeau monozygote Mosaïcisme Pathogénie Phénotype Prémutagène Séquence répétée Trinucléotide Déficience intellectuelle Homme Trouble développement
- Keyword (en)
- Mental retardation Sex linked character X-Chromosome Genetic determinism Child Case study Family study Chromosome fragility Monozygotic twin Mosaicism Pathogenesis Phenotype Premutagen Repeated sequence Trinucleotide Intellectual deficiency Human Developmental disorder
- Keyword (es)
- Retraso mental Carácter ligado al sexo Cromosoma X Determinismo genético Niño Estudio caso Estudio familiar Fragilidad cromosómica Gemelo monozigótico Mosaicismo Patogenia Fenotipo Premutágeno Secuencia repetida Trinucleótido Deficiencia intelectual Hombre Trastorno desarrollo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23C Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1726762
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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