title: 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.
abstract: 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.
authors.affiliation: INSERM U491, Université de la Méditerranée, Faculté de Médecine La Timone, Marseille, France.
authors.forename: L
authors.initials: L
authors.lastname: Villard
authors.forename: S
authors.initials: S
authors.lastname: Briault
authors.forename: A M
authors.initials: AM
authors.lastname: Lossi
authors.forename: C
authors.initials: C
authors.lastname: Paringaux
authors.forename: J
authors.initials: J
authors.lastname: Belougne
authors.forename: L
authors.initials: L
authors.lastname: Colleaux
authors.forename: D R
authors.initials: DR
authors.lastname: Pincus
authors.forename: E
authors.initials: E
authors.lastname: Woollatt
authors.forename: J
authors.initials: J
authors.lastname: Lespinasse
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: C
authors.initials: C
authors.lastname: Moraine
authors.forename: M
authors.initials: M
authors.lastname: Fontès
authors.forename: J
authors.initials: J
authors.lastname: Gecz
mesh_terms: D015152:Blotting, Northern; D002648:Child; D007446:Chromosome Inversion; D020224:Expressed Sequence Tags; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008099:Liver / Q000378:metabolism; D008297:Male; D008957:Models, Genetic; D009035:Mothers; D020161:Physical Chromosome Mapping; D014018:Tissue Distribution; D014158:Transcription, Genetic; D014960:X Chromosome