Summary
A viable duplication in the proximal long arm of the X chromosome in a boy with a malformative syndrome was delineated with molecular biology techniques using 14 probes from the X cen-Xq21 region. This analysis allowed us to refine the physical map of the X cen-Xq13 region.
This is a preview of subscription content, log in via an institution to check access.
References
Aldridge J, Kunkel L, Bruns G, Trantavahi U, Lalande, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T, Latt SA (1984) A strategy to reveal high frequency RFLP's along the human X chromosome. Am J Hum Genet 36:546–564
Brown CJ, Ballabio A, Rupert JL, Lafreniere RJ, Grompe M, Tonlorenzi R, Willard H (1991) A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349:38–44
Chance PF, Kurachi K, Ropers HU, Wieacker P, Gartler SM (1983) Regional assignment of the human factor IX and 3 phosphoglycerate kinase genes by molecular hybridization. Am J Hum Genet 35:187A
Cremers FPM, Pfeiffer RA, Van de Pol TJR, Hofker MH, Kruse TA, Wieringa B, Ropers HH (1987) An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Hum Genet 77:23–27
Cremers FPM, Van de Pol TJF, Wieringa B, Hofker MH, Pearson PL, Pfeiffer RA, Mikkelsen M, Tabor A, Ropers HU (1988) Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet 43:452–461
Cremers FPM, Van de Pol DJR, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers HU (1989) Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics 4:41–46
Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13
Goldman B, Polani PE, Daker MG, Angell RR (1982) Clinical and cytogenetic aspects of X chromosome deletions. Clin Genet 21:36–52
Goodfellow PN, Davies KE, Ropers HU (1985) Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet 40:296–352
Litt M, White RL (1985) A highly polymorphic locus in human DNA revealed by cosmid derived probes. Proc Natl Acad Sci USA 82:6206–6210
Mattei MG, Mattei JF, Vidal I, Giraud F (1981) Structural anomalies of the X chromosome and inactivation center. Hum Genet 56:401–408
Riddell DC, Wang HS, Beckett J, Chan A, Holden JJA, Mulligan CM, Philips MA, Simpson NE, Wrogemann K, Hamerton JL, White BN (1986) Regional localisation of 18 human X linked DNA sequences. Cytogenet Cell Genet 42:123–128
Schwartz S, Schwartz MF, Panny SR, Peterson CJ, Vaters E, Cohen MM (1986) Inherited X-chromosome inverted tandem duplication in a male traced to a grand parental meiotic error. Am J Hum Genet 38:741–750
Schwartz M, Yang HM, Niebuhr E, Rosenberg T, Page DC (1988) Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. Hum Genet 78:156–160
Sparkes RS, Salter WJ, Blaker RG, Muller HM (1977) Insertional translocation into the X chromosome of a 46,XY male. Clin Genet 12:144–118
Steinbach P, Horstmann W, Scholz W (1980) Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation. Hum Genet 54:309–313
Therman E, Sarto GE, Palmer CG, Kallio H, Denniston C (1979) Position of the human X inactivation center on Xq. Hum Genet 50:59–64
Thode A, Partington MW, Yip MY, Chapman C, Richardson VF, Turner G (1988) A new syndrome with mental retardation, short stature and an Xq duplication. Am J Med Genet 30:239–250
Vejerslev LO, Rix M, Jespersen B (1985) Inherited tandem duplication dup(X)(q13.1–q21.2) in a male proband. Clin Genet 27:276–281
Yang HM, Niebuhr E, Shen L (1989) Subregional localization of X probes by an Xq deletion panel. Cytogenet Cell Genet 51:113
Yunis JJ, Sawyer JR, Ball DW (1978) The characterization of high resolution G-banded chromosomes of man. Chromosoma 67:293–307
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Muscatelli, F., Verna, J.M., Philip, N. et al. Physical mapping of an Xq-proximal interstitial duplication in a male. Hum Genet 88, 691–694 (1992). https://doi.org/10.1007/BF02265299
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF02265299