Fertility and Sterility
Volume 90, Issue 5 , Pages 2004.e1-2004.e5 , November 2008

Ring chromosome 21 and reproductive pattern: a familial case and review of the literature

Received 15 January 2008 ,Revised 25 January 2008 ,Accepted 25 January 2008.

References 

  1. Manvelyan M, Schreyer I, Höls-Herpertz I, Köhler S, Niemann R, Hehr U, et al. Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints. Int J Mol Med. 2007;19:855–864
  2. Wong C, Kazazian HH, Stetten G, Earnshaw WC, Van Keuren ML, Antonarakis SE. Molecular mechanism in the formation of a human ring chromosome 21. Proc Natl Acad Sci U S A. 1989;86:1914–1918
  3. McGinnis MJ, Kazazian HH, Stetten G, Petersen MB, Boman H, Engel E, et al. Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Hum Genet. 1992;50:15–28
  4. Korenberg JR, Kawashima H, Pulst SM, Ikeuchi T, Ogasawara N, Yamamoto K, et al. Molecular definition of a region of chromosome 21 that causes features of Down syndrome phenotype. Am J Hum Genet. 1989;47:236–246
  5. Conte RA, Luke S, Verma RS. Characterization of ring chromosome 21 by FISH-technique. Clin Genet. 1995;48:188–191
  6. Crombez EA, Dipple KM, Schimmenti LA, Rao N. Duplication of down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21. Clin Dysmorphol. 2005;14:183–187
  7. Theodoropoulos DS, Cowan JM, Elias ER, Cole C. Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22. Am J Med Genet. 1995;59:161–163
  8. Rope AF, Hinton RB, Spicer RL, Blough-Pfau R, Saal HM. Dilated ascending aorta in a child with ring chromosome 21 syndrome. Am J Med Genet. 2004;130:191–195
  9. Falik-Borenstein TC, Pribyl TM, Pulst SM, Van Dyke DL, Weiss L, Chu ML, et al. A stable ring chromosome 21: molecular and clinical definition of the lesion. Am J Med Genet. 1992;42:22–28
  10. Ki A, Rauen KA, Black LD, Kostiner DR, Sandberg PL, Pinkel D, et al. Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR. Am J Med Genet A. 2003;120:365–369
  11. Pui CH, Williams DL, Scarborough V, Jackson CW, Price R, Murphy S. Acute megakaryoblastic leukaemia associated with intrinsic platelet dysfunction and constitutional ring 21 chromosome in a young boy. Br J Haematol. 1982;50:191–200
  12. Cabrol C, Werner-Favre C, Wyss M, Pitmon D, Engel E. Acute lymphoblastic leukemia in two children with congenital chromosome anomaly: familial inv(11)(p15q13) in one and ring chromosome no. 21 in the other. Cancer Genet Cytogenet. 1983;8:67–74
  13. McIlree ME, Tulloch WS, Newsman JE. Studies on human meiotic chromosome from testicular tissue. Lancet I. 1966;679–682
  14. Chandley AC. The chromosomal basis of human infertility. Br Med Bull. 1979;35:181–186
  15. Matsubara T, Nakagome Y, Ogasawara N, Oka S, Yocochi T. Maternally transmitted extra ring(21) chromosome in a boy with Down's syndrome. Hum Genet. 1982;60:78–79
  16. Schmid W, Tenconi R, Baccichetti C, Caufin D, Schinzel A. Ring chromosome 21 in phenotypically apparently normal person: report of two families from Switzerland and Italy. Am J Med Genet. 1983;18:315–319
  17. Howell RT, McDormatt A, Gargner A, Dickinson V. Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from maternal ring. J Med Genet. 1984;21:310–314
  18. Kleczkowska A, Fryns JP. Ring chromosome 21 in a normal female. Ann Genet. 1984;27:126–128
  19. Rhomberg K. Ring chromosome 21 in a healthy woman with three spontaneous abortions. Hum Genet. 1984;67:120
  20. Kosztolanyi G, Osztovics M, Toth S, Kiss P, Nagy A, Pap M, et al. Sixteen cases with ring autosomes. Phenotype and karyotype. A collaborative study. [Abstract] Clin Genet. 1985;28:443
  21. Huret JL, Leonard C, Kanoui V. Ring chromosome 21 in a phenotypically normal but infertile man. Clin genet. 1985;28:541–545
  22. Dallapiccola B, De Filippis V, Notarangelo A, Perla G, Zelante L. Ring chromosome 21 in healthy persons: different consequencies in females and males. Hum Genet. 1986;73:218–220
  23. Hertz JM. Familial transmission of a ring chromosome 21. Clin Genet. 1987;32:35–39
  24. Miller K, Reimer A, Schulze B. Tandem duplication chromosome 21 in the offspring of a ring 21 carrier. Ann Genet (Paris). 1987;30:180–182
  25. Kennerknecht I, Barbi G, Vogel W. Maternal transmission of ring chromosome 21. Hum Genet. 1990;86:99–101
  26. Ikeuchi T, Yamamoto K, Qiao F, Hayakawa K, Migita T, Nishikawa Y. Ring chromosome 21 transmitted from mother to daughter: its stability in a lymphoblastoid cell line. Ann Genet. 1990;33:32–35

 V.B. has nothing to disclose. A.V. has nothing to disclose. A.U. has nothing to disclose. E.T. has nothing to disclose. P.S. has nothing to disclose.

 The first two authors contributed equally to this paper.

PII: S0015-0282(08)00179-9

doi: 10.1016/j.fertnstert.2008.01.087

Fertility and Sterility
Volume 90, Issue 5 , Pages 2004.e1-2004.e5 , November 2008

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