European Journal of Obstetrics & Gynecology and Reproductive Biology
Volume 150, Issue 2 , Pages 119-125 , June 2010

Unbalanced translocation 6p/16q (partial monosomy 6p and trisomy 16q): prenatal diagnosis and cytogenetics

  • Alexander G. Puhl

      Affiliations

    • Department of Obstetrics and Gynaecology, University Medicine, Langenbeckstr. 1, 55131 Mainz, Germany
    • Corresponding Author InformationCorresponding author. Tel.: +49 6131 173912; fax: +49 6131 173405.
    • ,
  • Julia Zelazny

      Affiliations

    • Department of Obstetrics and Gynaecology, University Medicine, Langenbeckstr. 1, 55131 Mainz, Germany
    • ,
  • Danuta Galetzka

      Affiliations

    • Institute of Human Genetics, University Medicine, Mainz, Germany
    • ,
  • Christine Skala

      Affiliations

    • Department of Obstetrics and Gynaecology, University Medicine, Langenbeckstr. 1, 55131 Mainz, Germany
    • ,
  • Gabriele Frey-Mahn

      Affiliations

    • Institute of Human Genetics, University Medicine, Mainz, Germany
    • ,
  • Brigitte Wellek

      Affiliations

    • Institute of Human Genetics, University Medicine, Mainz, Germany
    • ,
  • Heinz Koelbl

      Affiliations

    • Department of Obstetrics and Gynaecology, University Medicine, Langenbeckstr. 1, 55131 Mainz, Germany

Received 13 November 2009 ,Revised 29 January 2010 ,Accepted 10 February 2010.

References 

  1. Lin RJ, Cherry AM, Chen KC, Lyons M, Hoyme HE, Hudgins L. Terminal deletion of 6p results in a recognizable phenotype. Am J Med Genet Part A. 2005;136A:162–168
  2. Ritscher D, Schinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P. Dandy–Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?. Am J Med Genet. 1987;26:481–491
  3. Davies AF, Mirza G, Sekhon G, et al. Delineation of two distinct 6p deletion syndromes. Hum Genet. 1999;104:64–72
  4. de Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C. Telomeres: a diagnosis at the end of the chromosomes. J Med Genet. 2003;40:385–398
  5. Anderlid BM, Schoumans J, Hallqvist A, et al. Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment. Eur J Hum Genet. 2003;11:89–92
  6. Mirza G, Williams RR, Mohammed S, et al. Refined genotypephenotype correlations in cases of chromosome 6p deletion syndromes. Eur J Hum Genet. 2004;12:718–728
  7. DeScipio C, Schneider L, Young TL, et al. Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher–Schinzel (3C) syndrome. Am J Med Genet Part A. 2005;134A:3–11
  8. Maclean K, Smith J, St. Heaps L, et al. Axenfeld-Rieger malformation and distinctive facial features: clues to a recognizable 6p25 microdeletion syndrome. Am J Med Genet Part A. 2005;132A:381–385
  9. Le Caignec C, de Mas P, Vincent MC, et al. Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases. Am J Med Genet Part A. 2005;132A:175–180
  10. Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, et al. Clinical presentation of a variant of Axenfeld–Rieger syndrome associated with subtelomeric 6p deletion. Eur J Med Genet. 2007;50:120–127
  11. Martinet D, Filges I, Schmutz NB, et al. Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients. Am J Med Genet Part A. 2008;146A:2094–2102
  12. Eiben B, Bartels I, Bahr-Porsch S, et al. Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature. Ann Genet. 1999;42:101–104
  13. Engelen JJ, de Die-Smulders CE, Vos PT, Meers LE, Albrechts JC, Hamers AJ. Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature. Ann Genet. 1999;42(2):101–104
  14. Schmickel R, Poznanski A, Himebaugh J. 16q trisomy in a family with a balanced 15/16 translocation. Birth Defects Orig Artic Ser. 1975;11(5):229–236
  15. Buckton KE, Barr DG. Partial trisomy for long arm of chromosome 16. J Med Genet. 1981;18:483
  16. Davison EV, Beesley JR. Partial trisomy 16 as a result of familial 16;20 translocation. J Med Genet. 1984;21:384–386
  17. Hatanaka K, Ozaki M, Suzuki M, Murata R, Fujita H. Trisomy 16q13→qter in a infant from a t(11;16)(q25;q13) translocation-carrier father. Hum Genet. 1984;65:311–315
  18. Dowman C, Lockwood D, Allanson J. Familial translocation t(9;16). J Med Genet. 1989;26:525–528
  19. Balestrazzi P, Giovannelli G, Landucci Rubini L, Dallapiccola B. Partial trisomy 16q resulting from maternal translocation. Hum Genet. 1979;49:229–235
  20. Garau A, Crisponi G, Peretti D, Vanni R, Zuffardi O. Trisomy 16q21→qter. Hum Genet. 1980;53:165–167
  21. Lessick ML, Israel J, Wong PW, Szego K. Partial trisomy 16q secondary to a maternal 9;16 translocation. J Med Genet. 1989;26:63–64
  22. Maher ER, Willatt L, Cuthbert G, Chapman C, Hodgson SV. Three cases of 16q duplication. J Med Genet. 1991;28:801–802
  23. Rethoré MO, Lafourcade J, Couturier J, et al. Increased activity of adenine phosphoribosyl transferase in a child trisomic for 16q22.2 to 16qter due to malsegregation of a t(16;21) (q22.2;q22;2)pat. Ann Genet. 1982;25:36–42
  24. Calva P, Frias S, Carnevale A, Reyes P. Partial trisomy 16q resulting from maternal translocation 11p/16q. Ann Genet. 1984;27:122–125
  25. Nyhan WL, Mascarello J, Barshop B, Doroski D, Hirschhorn K. Duplication of 16q and deletion of 15q. Am J Med Genet. 1989;34:183–186
  26. Houlston RS, Renshaw RM, James RS, Ironton R, Temple IK. Duplication of 16q22→qter confirmed by fluorescence in situ hybridization and molecular analysis. J Med Genet. 1994;31:884–887
  27. Sousa B, Rocha G, Doria S, Alves JR, Guedes B, Guimaraes H. New findings in partial trisomy 16q: clinical report. Acta Pediatr. 2003;92:852–854
  28. Chen CP, Lin SP, Lin CC, et al. Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-qter) and partial monosomy 20q (20q13.3-qter). Prenat Diagn. 2005;25:112–118
  29. Savary JB, Vasseur F, Manouvrier S, et al. Trisomy 16q23→qter arising from a maternal t(13;16)(p12;q23): case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique. Hum Genet. 1991;88:115–118
  30. Brisset S, Joly G, Ozilou C, et al. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature. Am J Med Genet. 2002;113:339–345
  31. Hahm SY, Chitayat D, Iqbal MA, Cho S, Nitowsky HM. Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review. Clin Genet. 1987;31(May (5)):343–348
  32. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30(June (12)):e57
  33. Ahn JW, Ogilvie CM, Welch A, et al. Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre. BMC Med Genet. 2007;5(March):8–9

☆ The research was conducted at the Department of Obstetrics and Gynaecology, University Medicine, Mainz.

PII: S0301-2115(10)00100-4

doi: 10.1016/j.ejogrb.2010.02.034

European Journal of Obstetrics & Gynecology and Reproductive Biology
Volume 150, Issue 2 , Pages 119-125 , June 2010

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