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....

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 1999
Pynciau:
Original Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734241/
https://ncbi.nlm.nih.gov/pubmed/10528854
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg