A 47, XXY patient and Xq21.31 duplication with features of Prader–Willi syndrome: results of array-based comparative genomic hybridization (original) (raw)

Access this article

Log in via an institution

Subscribe and save

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. E.B. Hook, Prevalence, risks and recurrence, in Prenatal Diagnosis and Screening, ed. by D.J.H. Brock, C. Rodeck, M. Ferguson-Smith (Churchill Livingstone, London, 1992), pp. 351–392
    Google Scholar
  2. A. Bojesen, S. Juul, C.H. Gravholt, Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J. Clin. Endocrinol. Metab. 88, 622–626 (2003)
    Article CAS PubMed Google Scholar
  3. C.A. Stratakis, Prader-Willi syndrome phenotype in X chromosome anomalies: evidence for a distinct syndrome. Am. J. Med. Genet. 80, 294–295 (1998)
    Article CAS PubMed Google Scholar
  4. M.T. Gabbett, G.B. Peters, J.M. Carmichael, A.P. Darmanian, F.A. Collins, Prader–Willi syndrome phenocopy due to duplication of Xq21.1–q21.31, with array CGH of the critical region. Clin. Genet. 73, 353–359 (2008)
    Article CAS PubMed Google Scholar
  5. T. Kubota, S. Nonoyama, H. Tonoki, M. Masuno, K. Imaizumi, M. Kojima, K. Wakui, M. Shimadzu, Y. Fukushima, A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum. Genet. 104, 49–55 (1999)
    Article CAS PubMed Google Scholar
  6. A.E. Oostlander, G.A. Meijer, B. Ylstra, Microarray-based comparative genomic hybridization and its applications in human genetics. Clin. Genet. 66, 488–495 (2004)
    Article CAS PubMed Google Scholar
  7. D. Pinkel, D.G. Albertson, Array comparative genomic hybridization and its applications in cancer. Nat. Genet. 37(Suppl), S11–S17 (2005)
    Article CAS PubMed Google Scholar
  8. M. Zitzmann, M. Depenbusch, J. Gromoll, E. Nieschlag, X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. J. Clin. Endocrinol. Metab. 89, 6208–6217 (2004)
    Article CAS PubMed Google Scholar
  9. Y. Iitsuka, A. Bock, D.D. Nguyen, C.A. Samango-Sprouse, J.L. Simpson, F.Z. Bischoff, Evidence of skewed X-chromosome inactivation in 47, XXY and 48, XXYY Klinefelter patients. Am. J. Med. Genet. 98, 25–31 (2001)
    Article CAS PubMed Google Scholar
  10. W. Ahmad, M. De Fusco, M.F. ul Haque, P. Aridon, T. Sarno, M. Sohail, S. ul Haque, M. Ahmad, A. Ballabio, B. Franco, G. Casari, Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity. Eur. J. Hum. Genet. 7, 828–832 (1999)
    Article CAS PubMed Google Scholar
  11. M. Wilson, J. Mulley, A. Gedeon, H. Robinson, G. Turner, New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. Am. J. Med. Genet. 40, 406–413 (1991)
    Article CAS PubMed Google Scholar
  12. L. Feuk, A.R. Carson, S.W. Scherer, Structural variation in the human genome. Nat. Rev. Genet. 7, 85–97 (2006)
    Article CAS PubMed Google Scholar
  13. C. Cheroki, A.C.V. Krepischi-Santos, K. Szuhai, V. Brenner, C.A.E. Kim, P.A. Otto, C. Rosenberg, Gneomic imbalances associated with mullerian aplasia. J. Med. Genet. 45, 228–232 (2008)
    Article CAS PubMed Google Scholar
  14. J.L. Simpson, F. de la Cruz, R.S. Swerdloff, C. Samango-Sprouse, N.E. Skakkebaek, J.M. Graham Jr., T. Hassold, M. Aylstock, H.F. Meyer-Bahlburg, H.F. Willard, J.G. Hall, W. Salameh, K. Boone, C. Staessen, D. Geschwind, J. Giedd, A.S. Dobs, A. Rogol, B. Brinton, C.A. Paulsen, Klinefelter syndrome: expanding the phenotype and identifying new research directions. Genet. Med. 5, 460–468 (2003)
    Article PubMed Google Scholar

Download references