title: Inherited inverted duplication of X chromosome in a male: report of a patient and review of the literature.
abstract: Nineteen cases of duplication of segments of the long arm of chromosome X have been published in 13 males and in 6 females. We report an additional case of a male with growth and mental retardation, growth hormone deficiency, compensated primary hypothyroidism, distinctive anomalies of the face, hypoplastic genitalia, and hypotonia in whom inverted duplication of a segment in the long arm of X chromosome was diagnosed, 46,Y, dup (X)(q21.2q13.3), and mosaicism was demonstrated in his mother's X chromosome. The rearranged segment was diagnosed utilizing high resolution G-band technique and FISH studies, using chromosome X total chromosome probe and DNA XIST probe. This appears to be the first report of a patient with duplication of Xq and hypothyroidism.
authors.affiliation: Maccabi Clinic/Pediatrics, Neve Shaanan, Haifa, Israel.
authors.forename: M
authors.initials: M
authors.lastname: Shapira
authors.forename: H
authors.initials: H
authors.lastname: Dar
authors.forename: H
authors.initials: H
authors.lastname: Bar-El
authors.forename: N
authors.initials: N
authors.lastname: Bar-Nitzan
authors.forename: L
authors.initials: L
authors.lastname: Even
authors.forename: Z
authors.initials: Z
authors.lastname: Borochowitz
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D019066:Facies; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D013577:Syndrome; D014960:X Chromosome