Shapira M, Dar H, Bar-El H, Bar-Nitzan N, Even L, Borochowitz Z
Maccabi Clinic/Pediatrics, Neve Shaanan, Haifa, Israel.
Am J Med Genet. 1997 Nov 12;72(4):409-14. doi: 10.1002/(sici)1096-8628(19971112)72:4<409::aid-ajmg7>3.0.co;2-l.
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.
