Detailed analysis of isodicentric Y in a case with azoospermia and 45,X/46,X,Idic(Y) mosaicism

Annals of Clinical and Laboratory Science

Volumn 45, Issue 2, 2015, Pages 206-208

  Lee, Jaehyeon ^a   Park, Jong Kwan ^a,b   Kim, Dal Sik ^a,b   Lee, Hye Soo ^a,b   Choi, Sam Im ^a,b   Cho, Yong Gon ^a,b  

^a Chonbuk National University Medical School   (South Korea)

^b Chonbuk National University Medical School and Hospital   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; FOLLITROPIN; LUTEINIZING HORMONE; TESTIS DETERMINING FACTOR; TESTOSTERONE; TRIACYLGLYCEROL;

45,X/46,XY MOSAICISM; ADULT; ARTICLE; AZOOSPERMIA; CASE REPORT; CENTROMERE; CHOLESTEROL BLOOD LEVEL; CHROMOSOME MOSAICISM; CYTOGENETICS; DNA PROBE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYDROCELE; MALE; MALE GENITAL SYSTEM; PERIPHERAL LYMPHOCYTE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEMEN ANALYSIS; SEQUENCE TAGGED SITE; TESTOSTERONE BLOOD LEVEL; VARICOCELE; Y CHROMOSOME; CHROMOSOME ABERRATION; CHROMOSOME DELETION; GENETICS; MOSAICISM; X CHROMOSOME;

ADULT; AZOOSPERMIA; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOSAICISM;

EID: 84929337042     PISSN: 00917370     EISSN: 15508080     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Daniel A, Lyons N, Casey JH, Gras L. Two dicentric Y isochromosomes, one without and the Yqh heterochromatic segment: review of the Y isochromosomes. Hum Genet 1980;54:31-9.
2. Therman E, Trunca C, Kuhn EM, Sarto GE. Dicentric chromosomes and the inactivation of the centromere. Hum Genet 1986;72:191-5.
3. Bouayed Abdelmoula N, Amouri A. [Dicentric Y chromosomes. First part: cytogenetic and molecular aspects]. Ann Biol Clin (Paris) 2005;63:263-78.
4. DesGroseilliers M, Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N. Phenotypic variability in isodicentric Y patients: study of nine cases. Clin Genet 2006;70:145-50.
5. Foote S, Vollrath D, Hilton A, Page DC. The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 1992;258:60-6.
6. Silber SJ DC. Y Chromosome Infertility. Seattle (WA): University of Washington, 2002.
7. Foresta C, Ferlin A, Gianaroli L, Dallapiccola B. Guidelines for the appropriate use of genetic tests in infertile couples. Eur J Hum Genet 2002;10:303-12.
8. Hsu LY. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 1994;53:108-40.
9. Tuck-Muller CM, Chen H, Martinez JE, Shen CC, Li S, Kusyk C, et al. Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature. Hum Genet 1995;96:119-29.
10. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, et al. Cytogenetics of infertile men. Hum Reprod 1996;11 Suppl 4:1-24; discussion 5-6.
11. Lehmann KJ, Kovac JR, Xu J, Fischer MA. Isodicentric Yq mosaicism presenting as infertility and maturation arrest without altered SRY and AZF regions. J Assist Reprod Genet 2012;29:939-42.
12. Lange J, Skaletsky H, van Daalen SK, Embry SL, Korver CM, Brown LG, et al. Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell 2009;138:855-69.
13. Foresta C, Ferlin A, Moro E, Garolla A, Rossato M, Scandellari C. [Microdeletions of the Y chromosome in cryptorchidism and in idiopathic male infertility]. Ann Ital Med Int 1999;14:151-8.
14. Foresta C, Moro E, Garolla A, Onisto M, Ferlin A. Y chromosome microdeletions in cryptorchidism and idiopathic infertility. J Clin Endocrinol Metab 1999;84:3660-5.
15. Ferlin A, Moro E, Garolla A, Foresta C. Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY. Hum Reprod 1999;14:1710-6.
16. Bettio D, Venci A, Rizzi N, Negri L, Setti PL. Clinical and molecular cytogenetic studies in three infertile patients with mosaic rearranged Y chromosomes. Hum Reprod 2006;21:972-5.
17. Jakubowski L, Jeziorowska A, Constantinou M, Kaluzewski B. Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction. Clin Genet 2000;57:291-5.
18. Ma K, Mallidis C, Bhasin S. The role of Y chromosome deletions in male infertility. Eur J Endocrinol 2000;142:418-30.
19. Ferlin A, Tessari A, Ganz F, Marchina E, Barlati S, Garolla A, et al. Association of partial AZFc region deletions with spermatogenic impairment and male infertility. J Med Genet 2005;42:209-13.
20. Ferlin A, Moro E, Rossi A, Dallapiccola B, Foresta C. The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet 2003;40:18-24.
21. Kalantari H, Asia S, Totonchi M, Vazirinasab H, et al. Delineatging the association between isodicentric chromosome Y and infertility: a retrospective study. Fertil Steril 2014;101(4):1091-6.