Pericentric inversion of chromosom 12 [Inv (12) (p12q12)] associated with idiopathic azoospermia in one infertile Tunisian man

Biochemical and Biophysical Research Communications

Volumn 432, Issue 3, 2013, Pages 472-474

  Ghorbel, Myriam ^a   Baklouti Gargouri, Siwar ^a   ElGhazel, Hatem ^b   Zribi, Nacira ^a   Abdallah, Fatma Ben ^a   Cherif, Meriem ^a   Fakhfakh, Faiza ^a   Saad, Ali ^b   Ammar Keskes, Leila ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b FARHAT HACHED HOSPITAL   (Tunisia)

Author keywords

Chromosome 12; Non obstructive azoospermia; Pericentric inversion

Indexed keywords

FOLLITROPIN; INHIBIN B; LUTEINIZING HORMONE;

ADULT; ARTICLE; AZOOSPERMIA; CASE REPORT; CHROMOSOME 12; CHROMOSOME BREAKAGE; HISTOPATHOLOGY; HUMAN; IDIOPATHIC DISEASE; KARYOTYPE 46,XY; MALE; PERICENTRIC CHROMOSOME INVERSION; PRIORITY JOURNAL; SEMEN ANALYSIS; SERTOLI CELL; SEXUAL INTERCOURSE; TUNISIA;

ADULT; AZOOSPERMIA; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 12; HUMANS; KARYOTYPE; MALE; SERTOLI CELL-ONLY SYNDROME; TESTIS; TUNISIA;

EID: 84874984581     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2013.01.110     Document Type: Article

References (21)

1. Griffin D.K., Finch K.A. The genetic and cytogenetic basis of male infertility. Hum. Fertil. (Camb.) 2005, 8(1):19-26.
2. Chandley A.C., McBeath S., Speed R.M., Yorston L., Hargreave T.B. Pericentric inversion in human chromosome 1 and the risk for male sterility. J. Med. Genet. 1987, 24(6):325-334.
3. Tomomasa H., Adachi Y., Iwabuchi M., Oshio S., Umeda T., Iino Y., Takano T., Nakahori Y. Pericentric inversion of the Y chromosome of infertile male. Arch. Androl. 2000, 45(3):181-185.
4. Batanian J., Hulten M.A. Electron microscopic investigations of synaptonemal complexes in an infertile human male carrier of a pericentric inversion inv(1)(p32q42). Regular loop formation but defective synapsis including a possible interchromosomal effect. Hum. Genet. 1987, 76(1):81-89.
5. Meschede D., Froster U.G., Bergmann M., Nieschlag E. Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest. J. Med. Genet. 1994, 31(7):573-575.
6. Black L.D., Nudell D.M., Cha I., Cherry A.M., Turek P.J. Compound genetic factors as a cause of male infertility: case report. Hum. Reprod. 2000, 15(2):449-451.
7. Navarro J., Benet J., Martorell M.R., Templado C., Egozcue J. Segregation analysis in a man heterozygous for a pericentric inversion of chromosome 7 (p13;q36) by sperm chromosome studies. Am. J. Hum. Genet. 1993, 53(1):214-219.
8. Davalos I.P., Rivas F., Ramos A.L., Galaviz C., Sandoval L., Rivera H. Inv(9)(p24q13) in three sterile brothers. Ann. Genet. 2000, 43(1):51-54.
9. Teyssier M., Moreau N. Familial pericentric inversion of chromosome 10. 2 new cases. Ann. Genet. 1983, 26(3):183-186.
10. Ichioka K., Yoshimura K., Honda T., Takahashi A., Terai A. Paracentric inversion of chromosome 7(q22-31) associated with nonobstructive azoospermia. Fertil. Steril. 2005, 83(2):455-456.
11. Van Assche Bonduelle M., Tournaye H., Joris H., Verheyen G., Devroey P., Van Steirteghem A., Liebaers I. Cytogenetics of infertile men. Hum. Reprod. 1996, 11(Suppl. 4):1-24. discussion 25-6.
12. Mozdarani H., Meybodi A.M., Karimi H. Impact of pericentric inversion of chromosome 9 [inv (9) (p11q12)] on infertility. Indian J. Hum. Genet. 2007, 13:26-29.
13. Sasiadek M., Haus O., Lukasik-Majchrowska M., Slezak Paprocka-Borowicz M., Busza H., Plewa R., et al. Cytogenetic analysis in couples with spontaneous abortions. Ginekol. Pol. 1997, 68:248-252.
14. Silahtaroglu A.N., Hacihanefioglu S., Guven G.S., Cenani A., Wirth J., Tommerup N., Tumer Z. Not para-, not peri-, but centric inversion of chromosome 12. J. Med. Genet. 1998, 35(8):682-684.
15. Akin H., Onay H., Turker E., Ozkinay F. Primary male infertility in Izmir/Turkey: a cytogenetic and molecular study of 187 infertile Turkish patients. J. Assist. Reprod. Genet. 2011, 28:419-423.
16. Sato Y., Bohlander S.K., Kobayashi H., Suto Y., Davis E.M., Espinosa R., Le Beau M.M., Rowley J.D. Identification of pericentric inversion 12, inv(12)(p13.1q11), by fluorescence in situ hybridization in a patient with acute myeloid leukemia (AML-M6). Cancer Genet. Cytogenet. 1997, 97(2):157-160.
17. Larripa I., Mecucci C., Testoni N., Bosly A., Doyen C., Tytgat H., Van den Berghe H. Inversions of chromosome 12 in human malignancies. Cancer Genet. Cytogenet. 1987, 28(1):113-118.
18. Voiculescu I., Barbi G., Wolff G., Steinbach P., Back E., Schempp W. Familial pericentric inversion of chromosome 12. Hum. Genet. 1986, 72(4):320-322.
19. Haagerup A., Hertz J.M. Pericentric inversion of chromosome 12; a three family study. Hum. Genet. 1992, 89(3):292-294.
20. Uehara S., Tanigawara S., Takeyama Y., Okamura K., Yajima A. A family with pericentric inversion of chromosome 12. Jpn. J. Hum. Genet. 1994, 39(1):201-204.
21. Yan Z., Cui K., Murray D.M., Ling C., Xue Y., Gerstein A., Parsons R., Zhao K., Wang W. PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes. Genes Dev. 2005, 19(14):1662-1667.