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Genetics Research International
Volume 2011 (2011), Article ID 185271, 7 pages
http://dx.doi.org/10.4061/2011/185271
Case Report

Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features

1Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC and Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
2Department of Pediatrics, University of Pittsburgh School of Medicine and Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15213, USA
3Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213, USA
4Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC and Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA

Received 16 February 2011; Revised 28 April 2011; Accepted 7 May 2011

Academic Editor: Reha Toydemir

Copyright © 2011 Jie Hu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. K. E. Buckton, G. Spowart, M. S. Newton, and H. J. Evans, “Forty four probands with an additional “marker” chromosome,” Human Genetics, vol. 69, no. 4, pp. 353–370, 1985. View at Google Scholar · View at Scopus
  2. T. Liehr and A. Weise, “Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics,” International Journal of Molecular Medicine, vol. 19, no. 5, pp. 719–731, 2007. View at Google Scholar · View at Scopus
  3. J. A. Crolla, S. A. Youings, S. Ennis, and P. A. Jacobs, “Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited,” European Journal of Human Genetics, vol. 13, no. 2, pp. 154–160, 2005. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  4. T. Liehr, K. Mrasek, N. Kosyakova et al., “Small supernumerary marker chromosomes (sSMC) in humans are there B chromosomes hidden among them,” Molecular Cytogenetics, vol. 1, article 12, 2008. View at Google Scholar
  5. B. R. Haddad, E. Schröck, J. Meck et al., “Identification of de novo chromosomal markers and derivatives by spectral karyotyping,” Human Genetics, vol. 103, no. 5, pp. 619–625, 1998. View at Publisher · View at Google Scholar · View at Scopus
  6. J. Hu, M. Sathanoori, S. Kochmar, and U. Surti, “Application of multicolor banding for identification of complex chromosome 18 rearrangements,” Journal of Molecular Diagnostics, vol. 8, no. 4, pp. 521–525, 2006. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  7. L. G. Shaffer and B. A. Bejjani, “A cytogeneticist's perspective on genomic microarrays,” Human Reproduction Update, vol. 10, no. 3, pp. 221–226, 2004. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  8. K. D. Tsuchiya, K. E. Opheim, M. C. Hannibal et al., “Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization,” Molecular Cytogenetics, vol. 1, article 7, 2008. View at Google Scholar
  9. B. A. Bejjani, A. P. Theisen, B. C. Ballif, and L. G. Shaffer, “Array-based comparative genomic hybridization in clinical diagnosis,” Expert Review of Molecular Diagnostics, vol. 5, no. 3, pp. 421–429, 2005. View at Publisher · View at Google Scholar · View at PubMed · View at Scopus
  10. A. G. W. Hunter, B. Dupont, M. McLaughlin et al., “The Hunter-McAlpine syndrome results from duplication 5q35-qter,” Clinical Genetics, vol. 67, no. 1, pp. 53–60, 2005. View at Publisher · View at Google Scholar · View at PubMed
  11. C. P. Chen, S. P. Lin, C. C. Lin et al., “Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q,” American Journal of Medical Genetics, Part A, vol. 140, no. 14, pp. 1594–1600, 2006. View at Publisher · View at Google Scholar · View at PubMed
  12. P. Baker, J. Piven, S. Schwartz, and S. Patil, “Brief report: duplication of chromosome 15q11-13 in two individuals with autistic disorder,” Journal of Autism and Developmental Disorders, vol. 24, no. 4, pp. 529–535, 1994. View at Publisher · View at Google Scholar
  13. C. M. Wolpert, M. M. Menold, M. P. Bass et al., “Three probands with autistic disorder and isodicentric chromosome 15,” American Journal of Medical Genetics, vol. 96, no. 3, pp. 365–372, 2000. View at Publisher · View at Google Scholar
  14. A. E. Silva, S. A. Vayego-Lourenço, A. C. Fett-Conte, E. M. Goloni-Bertollo, and M. Varella-Garcia, “Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder,” Arquivos de Neuro-Psiquiatria, vol. 60, no. 2 A, pp. 290–294, 2002. View at Google Scholar
  15. E. G. Utine, Y. Alanay, D. Aktas et al., “Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH,” European Journal of Medical Genetics, vol. 51, no. 4, pp. 343–350, 2008. View at Publisher · View at Google Scholar · View at PubMed
  16. F. Sheth, J. Andrieux, and J. Sheth, “Supernumerary marker chromosome in a child with microcephaly and mental retardation,” Indian Pediatrics, vol. 47, no. 3, pp. 277–279, 2010. View at Google Scholar
  17. R. J. Schroer, M. C. Phelan, R. C. Michaelis et al., “Autism and maternally derived aberrations of chromosome 15q,” American Journal of Medical Genetics, vol. 76, no. 4, pp. 327–336, 1998. View at Publisher · View at Google Scholar
  18. F. Z. Boyar, M. M. Whitney, A. C. Lossie et al., “A family with a grand-maternally derived interstitial duplication of proximal 15q,” Clinical Genetics, vol. 60, no. 6, pp. 421–430, 2001. View at Publisher · View at Google Scholar
  19. M. Simic and J. Turk, “Autistic spectrum disorder associated with partial duplication of chromosome 15; three case reports,” European Child and Adolescent Psychiatry, vol. 13, no. 6, pp. 389–393, 2004. View at Publisher · View at Google Scholar · View at PubMed
  20. D. Cohen, C. Martel, A. Wilson et al., “Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q,” Journal of Autism and Developmental Disorders, vol. 37, no. 8, pp. 1585–1591, 2007. View at Publisher · View at Google Scholar · View at PubMed
  21. T. Webb, C. A. Hardy, M. King, E. Watkiss, C. Mitchell, and T. Cole, “A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes,” Clinical Genetics, vol. 53, no. 1, pp. 34–43, 1998. View at Google Scholar
  22. N. J. Wang, D. Liu, A. S. Parokonny, and N. C. Schanen, “High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage,” American Journal of Human Genetics, vol. 75, no. 2, pp. 267–281, 2004. View at Publisher · View at Google Scholar · View at PubMed
  23. N. R. Dennis, M. W. M. Veltman, R. Thompson, E. Craig, P. F. Bolton, and N. S. Thomas, “Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13,” American Journal of Medical Genetics, vol. 140, no. 5, pp. 434–441, 2006. View at Publisher · View at Google Scholar · View at PubMed
  24. C. A. Kaufmann, B. Suarez, D. Malaspina et al., “NIMH genetics initiative millennium Schizophrenia consortium: linkage analysis of African-American pedigrees,” American Journal of Medical Genetics, vol. 81, no. 4, pp. 282–289, 1998. View at Publisher · View at Google Scholar
  25. A. Battaglia, “The inv dup (15) or idic (15) syndrome (Tetrasomy 15q),” Orphanet Journal of Rare Diseases, vol. 3, no. 1, article 30, 7 pages, 2008. View at Publisher · View at Google Scholar · View at PubMed
  26. A. Battaglia, F. Gurrieri, E. Bertini et al., “The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy,” Neurology, vol. 48, no. 4, pp. 1081–1086, 1997. View at Google Scholar
  27. J. Piard, C. Philippe, M. Marvier et al., “Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication,” American Journal of Medical Genetics. Part A, vol. 152, no. 8, pp. 1933–1941, 2010. View at Publisher · View at Google Scholar · View at PubMed
  28. P. F. Bolton, N. R. Dennis, C. E. Browne et al., “The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders,” American Journal of Medical Genetics, vol. 105, no. 8, pp. 675–685, 2001. View at Publisher · View at Google Scholar · View at PubMed
  29. E. H. Cook Jr., V. Lindgren, B. L. Leventhal et al., “Autism or atypical autism in maternally but not paternally derived proximal 15q duplication,” American Journal of Human Genetics, vol. 60, no. 4, pp. 928–934, 1997. View at Google Scholar
  30. C. E. Browne, N. R. Dennis, E. Maher et al., “Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations,” American Journal of Human Genetics, vol. 61, no. 6, pp. 1342–1352, 1997. View at Publisher · View at Google Scholar · View at PubMed
  31. T. K. Mohandas, J. P. Park, R. A. Spellman et al., “Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay,” American Journal of Medical Genetics, vol. 82, no. 4, pp. 294–300, 1999. View at Publisher · View at Google Scholar
  32. R. Mao, S. M. Jalal, K. Snow, V. V. Michels, S. M. Szabo, and D. Babovic-Vuksanovic, “Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin,” Genetics in Medicine, vol. 2, no. 2, pp. 131–135, 2000. View at Google Scholar
  33. S. E. Roberts, N. R. Dennis, C. E. Browne et al., “Characterisation of interstitial duplications and triplications of chromosome 15q11-q13,” Human Genetics, vol. 110, no. 3, pp. 227–234, 2002. View at Publisher · View at Google Scholar · View at PubMed
  34. C. Depienne, D. Moreno-De-Luca, D. H eron et al., “Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders,” Biological Psychiatry, vol. 66, no. 4, pp. 349–359, 2009. View at Publisher · View at Google Scholar · View at PubMed
  35. J. Zachowski, F. Tsien, S. Schwartz et al., “Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications,” American Journal of Human Genetics, vol. 54, no. 5, pp. 748–756, 1994. View at Google Scholar
  36. A. E. Wandstrat, J. Leana-Cox, L. Jenkins, and S. Schwartz, “Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15,” American Journal of Human Genetics, vol. 62, no. 4, pp. 925–936, 1998. View at Publisher · View at Google Scholar · View at PubMed
  37. C. Mignon, “Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect,” European Journal of Human Genetics, vol. 4, no. 2, pp. 88–100, 1996. View at Google Scholar
  38. A. Loitzsch and O. Bartsch, “Healthy 12-year-old boy with mosaic inv dup(15)(q13) [3],” American Journal of Medical Genetics, vol. 140, no. 6, pp. 640–643, 2006. View at Publisher · View at Google Scholar · View at PubMed
  39. S. Saitoh, K. Hosoki, K. Takano, and H. Tonoki, “Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy [2],” Clinical Genetics, vol. 72, no. 4, pp. 378–380, 2007. View at Publisher · View at Google Scholar · View at PubMed
  40. S. E. Roberts, F. Maggouta, N. S. Thomas et al., “A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype,” The American Journal of Human Genetics, vol. 73, pp. 1061–1072, 2003. View at Google Scholar
  41. W. P. Robinson, F. Binkert, R. Giné et al., “Clinical and molecular analysis of five inv dup(15) patients,” European Journal of Human Genetics, vol. 1, no. 1, pp. 37–50, 1993. View at Google Scholar
  42. T. Webb, C. A. Hardy, M. King, E. Watkiss, C. Mitchell, and T. Cole, “A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes,” Clinical Genetics, vol. 53, no. 1, pp. 34–43, 1998. View at Google Scholar
  43. L. B. K. Herzing, E. H. Cook Jr., and D. H. Ledbetter, “Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications,” Human Molecular Genetics, vol. 11, no. 15, pp. 1707–1718, 2002. View at Google Scholar
  44. J. H. Lee, H. S. Cho, E. S. Lee, and B.-C. Jung, “A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome,” Korean Journal of Laboratory Medicine, vol. 30, no. 3, pp. 312–317, 2010. View at Publisher · View at Google Scholar · View at PubMed
  45. P. Mabboux, S. Brisset, A. Aboura et al., “We report on a 13-year-old boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a pure and complete trisomy 18p due to a SMC,” American Journal of Medical Genetics Part A, vol. 143, pp. 727–733, 2007. View at Google Scholar