Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1
| Autor: | Villard, M, Briault, S., Lossi, M, Paringaux, C., Belougne, J., Colleaux, C, Pincus, D., Woollatt, E., Lespinasse, J., Munnich, M, Moraine, M, Fontès, M, Gecz, J., Villard, L., Lossi, A.-M., Colleaux, Laurence, Munnich, A., Moraine, C., Fontes, M. |
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| Přispěvatelé: | Laboratoire de Cytogénétique, CH Chambéry, INSERM U491 (U491), Handicaps génétiques de l'enfant (Inserm U393), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5) |
| Jazyk: | angličtina |
| Rok vydání: | 1999 |
| Předmět: |
Male
Transcription Genetic Genetic Linkage MESH: Child Tissue Distribution MESH: Models Genetic MESH: In Situ Hybridization Fluorescence Child Genetics (clinical) X chromosome In Situ Hybridization Fluorescence Chromosomal inversion Genetics Expressed Sequence Tags 0303 health sciences Expressed sequence tag 030305 genetics & heredity Physical Chromosome Mapping MESH: Chromosome Inversion MESH: Mothers Liver Cosmid congenital hereditary and neonatal diseases and abnormalities X Chromosome MESH: Genetic Linkage Mothers Biology MESH: Physical Chromosome Mapping MESH: Expressed Sequence Tags MESH: Intellectual Disability 03 medical and health sciences Restriction map Genetic linkage Intellectual Disability Humans MESH: Blotting Northern MESH: Tissue Distribution 030304 developmental biology MESH: X Chromosome MESH: Humans Models Genetic MESH: Transcription Genetic Breakpoint Original Articles Blotting Northern MESH: Male [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Chromosome Inversion MESH: Liver |
| Zdroj: | Journal of Medical Genetics Journal of Medical Genetics, BMJ Publishing Group, 1999, 36 (10), pp.754-758. ⟨10.1136/jmg.36.10.754⟩ |
| ISSN: | 0022-2593 1468-6244 |
| Popis: | Two unrelated mildly retarded males with inversions of the X chromosome and non-specific mental retardation (MRX) are described. Case 1 has a pericentric inversion 46,Y,inv(X)(p11.1q13.1) and case 2 a paracentric inversion 46,Y,inv(X) (q13.1q28). Both male patients have severe learning difficulties. The same chromosomal abnormalities were found in their mothers who are intellectually normal. Fluorescence in situ hybridisation mapping showed a common area of breakage of each of the inverted chromosomes in Xq13.1 near DXS131 and DXS162. A detailed long range restriction map of the breakpoint region was constructed using YAC, PAC, and cosmid clones. We show that the two inverted chromosomes break within a short 250 kb region. Moreover, a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene. Keywords: inverted X chromosome; non-specific X linked mental retardation; XLMR; MRX |
| Databáze: | OpenAIRE |
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