title: FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother.
authors.affiliation: Galliera Hospital, Genoa, Italy. simona.cavani@galliera.it
authors.forename: Simona
authors.initials: S
authors.lastname: Cavani
authors.forename: Paolo
authors.initials: P
authors.lastname: Prontera
authors.forename: Marina
authors.initials: M
authors.lastname: Grasso
authors.forename: Carmela
authors.initials: C
authors.lastname: Ardisia
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.forename: Cristina
authors.initials: C
authors.lastname: Gradassi
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Cecconi
authors.forename: Amedea
authors.initials: A
authors.lastname: Mencarelli
authors.forename: Emilio
authors.initials: E
authors.lastname: Donti
authors.forename: Mauro
authors.initials: M
authors.lastname: Pierluigi
mesh_terms: D000293:Adolescent; D000328:Adult; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D041321:Chromosomes, Human, X / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D008565:Membrane Proteins; D009687:Nuclear Proteins; C099930:AFF2 protein, human; C497683:FMR1 protein, human; C108630:TEX28 protein, human