Molecular and clinical characteristics of 26 cases with structural y chromosome aberrations

Cytogenetic and Genome Research

Volumn 136, Issue 4, 2012, Pages 270-277

  Kim, J W ^a   Park, S Y ^a   Ryu, H M ^a   Lee, D E ^a   Lee, B Y ^a   Kim, S Y ^a   Park, Y S ^a   Lee, H S ^a   Seo, J T ^a,b  

^a Catholic Kwandong University   (South Korea)

^b Cheil General Hospital   (South Korea)

Author keywords

AZF region microdeletions; Infertility; Structural Y chromosome aberrations

Indexed keywords

ESTRADIOL; FOLLITROPIN; LUTEINIZING HORMONE; PROLACTIN; TESTOSTERONE;

ADULT; ARTICLE; AZOOSPERMIA; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME INVERSION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATIONAL STUDY; ESTRADIOL BLOOD LEVEL; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLITROPIN BLOOD LEVEL; GENETIC ASSOCIATION; GENETIC COUNSELING; HUMAN; HUMAN TISSUE; INFERTILITY THERAPY; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PHENOTYPE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PROLACTIN BLOOD LEVEL; SEMEN ANALYSIS; STRUCTURAL CHROMOSOME ABERRATION; TESTOSTERONE BLOOD LEVEL; UTERUS; Y CHROMOSOME;

ADULT; AZOOSPERMIA; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, Y; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MIDDLE AGED; SEX CHROMOSOME ABERRATIONS; SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 84862325903     PISSN: 14248581     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000338413     Document Type: Article

References (33)

1. Aiello V., Astolfi N., Gruppioni R., Buldrini B., Prontera P., et al. Paracentric inversion of Yq and review of the literature Genet. Couns. 18 379-382 2007
2. Arnemann J, Schnittger S, Hinkel GK, Tolkendorf E, Schmidtke J, Hansmann I: A sterile male with 45,X0 and a Y;22 translocation. Hum Genet 87: 134-138 (1991).
3. Codina-Pascual M, Oliver-Bonet M, Navarro J, Starke H, Liehr T, et al: FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male. Am J Med Genet A 127: 302-306 (2004). (Pubitemid 38685874)
4. Cui YX, Shi YC, Liu Q, Xia XY, Lu HY, et al: A case of agonadism associated with Ychromosome rearrangement: cytogenetic and molecular studies. J Androl 30: 650-654 (2009).
5. Delobel B, Djlelati R, Gabriel-Robez O, Croquette MF, Rousseaux-Prevost R, et al: Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies. Hum Genet 102: 98-102 (1998). (Pubitemid 28185268)
6. DesGroseilliers M, Fortin F, Lafreniere AM, Brochu P, Lemyre E, Lemieux N: Dynamic increase of a 45,X cell line in a patient with multicentric ring Y chromosomes. Cytogenet Genome Res 115: 90-93 (2006). (Pubitemid 44401356)
7. Disteche CM, Brown L, Saal H, Friedman C, Thuline HC, et al: Molecular detection of a translocation (Y;15) in a 45,X male. Hum Genet 74: 372-377 (1986). (Pubitemid 17057586)
8. Gardner RJ, Sutherland GR: Chromosome Abnormalities and Genetic Counseling. Sex chromosome translocations, pp 95-114 (Oxford University Press, Oxford 1996).
9. Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune JP, et al: Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod 16: 82-90 (2001). (Pubitemid 32058585)
10. Genest P, Bouchard M, Bouchard J: A satellited human Y chromosome: an evidence of autosome gonosome translocation. Can J Genet Cytol 9: 589-595 (1967).
11. Gimelli G, Giorda R, Beri S, Gimelli S, Zuffardi OA: 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. Am J Med Genet A 140: 40-45 (2006). (Pubitemid 43054033)
12. Hsu LY: Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53: 108-140 (1994). (Pubitemid 24335894)
13. Iourov IY, vorsanova SG, Liehr T, Monakhov vv, Soloviev Iv, Yurov YB: Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia. Cytogenet Genome Res 121: 302-306 (2008).
14. ISCN 2005: An International System for Cytogenetic Nomenclature (S. Karger, Basel 2005).
15. ISCN 2009: An International System for Human Cytogenetic Nomenclature (S. Karger, Basel 2009).
16. Krausz C, Quintana-Murci L, McElreavey K: Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod 15: 1431-1434 (2000).
17. Lin YH, Chuang L, Lin YM, Lin YH, Teng YN, Kuo PL: Isochromosome of Yp in a man with Sertoli-cell-only syndrome. Fertil Steril 83: 764-766 (2005). (Pubitemid 40348596)
18. Liou JD, Ma YY, Gibson LH, Su H, Charest N, et al: Cytogenetic and molecular studies of a familial paracentric inversion of Y chromosome present in a patient with ambiguous genitalia. Am J Med Genet 70: 134-137 (1997). (Pubitemid 27184569)
19. Madan K: Paracentric inversions: a review. Hum Genet 96: 503-515 (1995).
20. Mademont-Soler I, Morales C, Madrigal I, Margarit E, Bruguera J, et al: Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation. Am J Med Genet A 149A:2820-2823 (2009).
21. Nielsen J, Rasmussen K: Y/autosomal translocations. Clin Genet 9: 609-617 (1976).
22. Pinton A, Raymond Letron I, Berland HM, Bonnet N, Calgaro A, et al: Meiotic studies in an azoospermic boar carrying a Y;14 translocation. Cytogenet Genome Res 120: 106-111. (2008). (Pubitemid 351665394)
23. Powell C: Sex chromosomes and sex abnormalities, in Gersen GL, Keagle MB (eds): The Principles of Clinical Cytogenetics, pp 229- 258 (Humana Press, Totowa, NJ 1999).
24. Robinson DO, Dalton P, Jacobs PA, Mosse K, Power MM, Crolla JA: A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J Med Genet 36: 279-284 (1999). (Pubitemid 29161058)
25. Schmid M, Haaf T, Solleder E, Schempp W, Leipoldt M, Heilbronner H: Satellited Y chromosomes: structure, origin, and clinical significance. Hum Genet 67: 72-85 (1984). (Pubitemid 14124076)
26. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, et al: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346: 240-244 (1990).
27. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, et al: The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423: 825-837 (2003). (Pubitemid 36781267)
28. Tuck-Muller CM, Chen H, Martinez JE, Shen CC, Li S, et al: Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature. Hum Genet 96: 119-129 (1995).
29. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, et al: Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 Hum Mol Genet 5 933-943 (1996). (Pubitemid 26232272)
30. World Health Organization: WHO Laboratory Manual for the Examination of Human Semen and Semen-Cervical Mucus Interaction, 4th ed. (Cambridge University Press, Cambridge 1999).
31. Wyandt HE, Tonk vS: Atlas of Human Chromosome Heteromorphisms (Kluwer Academic Publishers, Dordrecht 2004).
32. Yakut S, Ozturk S, Simsek M, Mendilcioglu II, Luleci G: The prenatal diagnosis of familial satellited Yq chromosomes. Turk J Med Sci 41: 945-948 (2011).
33. Zamani AG, Kutlu R, Durakbasi-Dursun HG, Gorkemli H, Acar A: Y chromosome microdeletions in Turkish infertile men. Indian J Hum Genet 12: 66-71 (2006). (Pubitemid 44580745)