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Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency Cover

Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency

Open Access
|Dec 2011

References

  1. Jacobs PA. Mutation rates of structural chromosome rearrangements in man. Am J Hum Genet. 1981; 33(1): 44-54.
  2. Henegariu O, Kernek S, Keating MA, Palmer CG, Heerema NA. PCR and FISH analysis of a ring Y chromosome. Am J Med Genet. 1997; 69(2): 171-176.10.1002/(SICI)1096-8628(19970317)69:2<;171::AID-AJMG11>3.0.CO;2-I
  3. Henegariu O, Pescovitz OH, Vance GH, Verbrugge J, Heerema NA. A case with mosaic di-, tetra-, and octa-centric ring Y chromosomes. Am J Med Genet. 1997; 71(4): 426-429.10.1002/(SICI)1096-8628(19970905)71:4<;426::AID-AJMG10>3.0.CO;2-I
  4. Miller OJ, Therman E. Human Chromosomes. New York: Springer Verlag, 2001.10.1007/978-1-4613-0139-4
  5. Hsu LY. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis in structural aberrations in postnatally diagnosed cases. Am J Med Genet. 1994; 53(2): 108-140.10.1002/ajmg.1320530204
  6. Sher ES, Addelston MB, Plotnick L, Urban MD, Berkovitz GD. Molecular investigation of two male subjects with short stature and a 45, X/46, X, ring(Y) karyotype. Horm Res. 1998; 49(1): 46-50.10.1159/000023125
  7. Tanaka M, Ohmizono Y. Short stature and Turner skeletal features in an 11-year-old boy with a ring Y chromosome missing the short stature homeobox containing gene. Clin Pediatr Endocrinol. 2005; 14(2): 45-47.10.1297/cpe.14.45
  8. Carvalho FM, Wolfgramm EV, Degasperi I, Verbeno BM, Vianna BA, Chagas FF, Perroni AMS, Paula F, Louro ID. Molecular cytogenetic analysis of a ring Y infertile male patient. Genet Mol Res. 2007; 6(1): 59-66.
  9. Layman LC, Tho SPT, Clark AD, Kulharya A, Mc-Donough PG. Phenotypic spectrum of 45, X/46, XY males with a ring Y chromosome and bilaterally descended testes. Fertil Steril. 2009; 91(3): 791-797.10.1016/j.fertnstert.2007.12.078
  10. Liehr T, Mrasek K, Hinreiner S, Reich D, Ewers E, Bartels I, Seidel J, Emmanuil M, Petersen M, Polityko A, Dufke A, Iourov I, Trifonov V, Vermeesch J, Weise A. Small supernumerary marker chromosomes (sSMC) in patients with a karyotype 45, X/46, X, +mar - 17 new cases and a review of the literature. Sex Dev. 2007; 1(1): 353-362.10.1159/000111767
  11. Liehr, T. Homepage on small supernumerary marker chromosomes (sSMC). http://www.med.uni-jena.de/fish/sSMC/00START.htm
  12. Lopez-Valdes JA, Nieto K, Najera N, Cervantes A, Kofman-Alfaro S, Queipo G. Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male. Sex Dev. 2009; 3(4): 177-182.10.1159/000228717
  13. Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. Pediatrics. 2006; 118(2): 488-500.10.1542/peds.2006-0738
  14. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. Chromosome preparation of leukocytes cultured from human peripheral blood. Exp Cell Res. 1960; 20: 613-616.10.1016/0014-4827(60)90138-5
  15. Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971; 2(7731): 971-972.10.1016/S0140-6736(71)90287-X
  16. Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adilph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T. Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet. 2003; 114(1): 51-67.10.1007/s00439-003-1016-313680362
  17. Lansdorp PM, Verwoerd NP, van de Rijke FM, Dragowska V, Little MT, Dirks RW, Raap AK, Tanke HJ. Heterogeneity in telomere length of human chromosomes. Hum Mol Genet. 1996; 5(5): 685-691.10.1093/hmg/5.5.6858733138
  18. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16(3): 1215.10.1093/nar/16.3.12153347653344216
  19. Kogan SC, Doherty M, Gitschier A. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl J Med. 1987; 317(16): 985-990.10.1056/NEJM1987101531716033657865
  20. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of art 2004. Int J Androl. 2004; 27(4): 240-249.10.1111/j.1365-2605.2004.00495.x15271204
  21. Arnedo N, Nogués C, Bosch M, Templado C. Mitotic and meiotic behavior of a naturally transmitted ring Y chromosome: reproductive risk evaluation. Hum Reprod. 2005; 20(2): 462-468.10.1093/humrep/deh59815528264
  22. Tyler Smith C. Chromosome Y: General and Special Features. Encyclopedia of Life Sciences. (John Wiley & Sons, Ltd.) 2005 (www.els.net). www.els.net10.1038/npg.els.0005796
  23. Bettio D, Venci A, Rizzi N, Negri L, Levi Setti P. Clinical and molecular cytogenetic studies in three infertile patients with mosaic rearranged Y chromosome Hum Reprod. 2006; 21(4): 972-975.10.1093/humrep/dei42616484313
  24. Quilter CR, Nathwani N, Conway GS, Stanhope R, Ralph D, Bahadur G, Serhal P, Taylor K, Delhanty JDA. A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structural abnormal Y chromosomes on phenotypic sex. J Med Genet. 2002; 39(12): e80.10.1136/jmg.39.12.e80
  25. Juul A. Serum levels of insulin-like growth factor I and its binding proteins in health and disease. Growth Horm IGF Res. 2003; 13(4): 113-170.10.1016/S1096-6374(03)00038-8
Language: English
Page range: 71 - 76
Published on: Dec 8, 2011
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2011 T Milenkovic, M Guc-Scekic, D Zdravkovic, V Topic, T Liehr, G Joksic, D Radivojevic, N Lakic, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 14 (2011): Issue 2 (December 2011)