title: Disomy of distal Xq in males: case report and overview.
abstract: A 46,XYq 8-year-old male was referred for microcephaly, growth, and mental retardation, hypotonia, genital hypoplasia, and dysmorphisms. FISH analysis showed that the rearranged Y chromosome originated from an unbalanced translocation of Xq27.3-qter onto the deleted Yq11.22. Analysis of reported patients with disomy of region distal to Xq26 suggests that this rare anomaly, associated with failure to dosage compensate X-linked genes that are normally inactivated, when present in two copies, is causing a quite distinct phenotype. This imbalance is the aberrant by product of the recombinogenic pairing of the distal pseudoautosomal Xq-Yq region at male meiosis.
authors.affiliation: Ospedale Casa Sollievo della Sofferenza e Istituto CSS-Mendel, Roma, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.forename: Laura
authors.initials: L
authors.lastname: Bernardini
authors.forename: Damiano Carmelo
authors.initials: DC
authors.lastname: Salpietro
authors.forename: Silvana
authors.initials: S
authors.lastname: Briuglia
authors.forename: Maria Valeria
authors.initials: MV
authors.lastname: Merlino
authors.forename: Rita
authors.initials: R
authors.lastname: Mingarelli
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D019066:Facies; D020440:Gene Duplication; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008540:Meiosis; D008831:Microcephaly / Q000235:genetics; D008957:Models, Genetic; D009123:Muscle Hypotonia / Q000235:genetics; D010641:Phenotype; D014178:Translocation, Genetic; D024182:Uniparental Disomy; D014564:Urogenital Abnormalities / Q000235:genetics
chemical_list: D005819:Genetic Markers