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

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....

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Autors principals: Villard, L., Briault, S., Lossi, A., Paringaux, C., Belougne, J., Colleaux, L., Pincus, D, Woollatt, E, Lespinasse, J., Munnich, A., Moraine, C., Fontes, M., Gecz, J.
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 1999
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734241/
https://ncbi.nlm.nih.gov/pubmed/10528854
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