Summary
A mentally retarded 16-month-old boy with subnormal stature, strabismus, anteverted nares and deformed ears was found to have ade novo structural rearrangement of the X chromosome (46,Xp+Y). The banding patterns of the abnormal X chromosome were interpreted to be an inverted tandem duplication of the segment Xp22.1→Xp22.3. Several other possibilities were considered but thought less likely. DNA replication studies with BrdU incorporation revealed the replication pattern of the duplicated segment to be similar to the equivalent portion of the X chromosome.
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Allderdice, P. W., Miller, O. J., Miller, D. A., and Klinger, H. P. 1978. Spreading of inactivation in an (X; 14) translocation.Am. J. Med. Genet. 2: 233–240.
Berghe, H. van den, Petit, P., and Fryns, J. P. 1977. Y to X translocation in man.Human Genet.36: 129–141.
Buckton, K. E., Jacobs, P. A., Rae, I. A., Newton, M. S., and Sanger, R. 1971. An inherited X-autosome translocation in man.Ann. Human Genet. 35: 171–178.
Cann, H. M., Sakaguchi, S., Stone, J., Gold, E., and Luzzatti, L. 1975. Familial X-autosome translocation (X; 21).Am. J. Human Genet. 27: 23 (abstract).
Cervenka, J., Djavadi, G. R., and Gorlin, R. J. 1976. Partial trisomy 4q syndrome: Case report and review.Human Genet. 34: 1–7.
Dutrillaux, B., Couturier, J., Rotman, J., Salat, J., and Lejeune, J. 1972. Stérilité et translocation familiale t(1q−;Xq+).C.R. Acad. Sci. 274: 3324–3327.
Dutrillaux, B., Laurent, C., Couturier, J., and Lejeune, J. 1973. Coloration par l'acridine orange de chromosomes préalablement traités par le 5-bromodeoxyuridine (BUDR).C. R. Acad. Sci. 276: 3179–3181.
Hagemeijer, A., Hoovers, J., Smit, E. M. E., and Bootsma, D. 1977. Replication pattern of the X chromosomes in three X/autosomal translocations.Cytogenet. Cell Genet. 18: 333–348.
Jenkins, M. B., Davis, E., Thelen, T. H., and Boyd, L. 1974. A familial X-22 translocation with an extra X chromosome.Am. J. Human Genet. 26: 736–745.
Laurent, C., Biemont, M. C., and Dutrillaux, B. 1975. Sur quatre nouveaux cas de translocation du chromosome X chez l'homme.Humangenetik 26: 35–46.
Sparkes, R. S., Salter, W. J., Blaker, R. G., and Muller, H. M. 1977. Insertional translocation into the X chromosome of a 46,XY male.Clin. Genet. 12: 114–118.
Stengel-Rutkowski, S., Zankl, H., Rodewald, a., Scharrer, S., Chaudhuri, J. P., and Zang, K. D. 1976. Aspermia, associated with a presumably balanced X/autosomal translocation; karyotype 46,Y,t(X; 5) (q28; q11).Human Genet. 21: 97–106.
Taylor, K. M., Francke, U., Brown, M. G., George, D. L., and Kaufhold, M. 1977. Inverted tandem “mirror” duplication in human chromosomes: inv dup 8p, 4q and 22q.Am. J. Med. Genet. 1: 3–19.
Tiepolo, L., Zuffardi, O., and Rodewald, A. 1977. Nullisomy for the distal portion of Xp in a male child with a X/Y translocation.Human Genet. 39: 277–281.
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Narahara, K., Kodama, Y., Kimura, S. et al. Probable inverted tandem duplication of Xp in a 46,Xp+Y boy. Jap J Human Genet 24, 105–110 (1979). https://doi.org/10.1007/BF01888928
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DOI: https://doi.org/10.1007/BF01888928
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