Male infertility related to an aberrant karyotype, 46,XY,9ph,9qh+

Fertility and Sterility

Volumn 91, Issue 6, 2009, Pages 2732.e1-2732.e3

  Belangero, Síntia Iole Nogueira ^a   Christofolini, Denise Maria ^a   Bianco, Bianca ^a   Gava, Marcello Machado ^b   Wroclawski, Eric Roger ^b   Barbosa, Caio Parente ^a  

^a Gynecology and Obstetric Department   (Brazil)

^b FACULDADE DE MEDICINA DO ABC   (Brazil)

Author keywords

9ph; 9qh+; chromosome 9; enlarged heterochromatin; Infertility; pericentric inversion

Indexed keywords

AMELOGENIN; DAZ PROTEIN; HLA DQ ANTIGEN; RNA BINDING PROTEIN; TESTIS DETERMINING FACTOR; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 9; CHROMOSOME ANALYSIS; CHROMOSOME C BAND; CHROMOSOME G BAND; CHROMOSOME INVERSION; CROSSING OVER; DISEASE ASSOCIATION; GENE DELETION; HETEROCHROMATIN; HUMAN; KARYOTYPE 46,XY; MALE; MALE INFERTILITY; OLIGOSPERMIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PRIVATE PRACTICE; X CHROMOSOME; Y CHROMOSOME;

EID: 67349210746     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2008.10.057     Document Type: Article

References (17)

1. de la Chapelle A., Schröder J., Stenstrand K., Fellman J., Herva R., Saarni M., et al. Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet 26 (1974) 746-766
2. Tibiletti M.G., Simoni G., Terzoli G.L., Romitti L., Fedele L., and Candiani G.B. Pericentric inversion of chromosome 9 in couples with repeated spontaneous abortion. Acta Eur Fertil 12 (1981) 245-248
3. Ferguson-Smith M.A. Autosomal polymorphisms. Birth Defects Orig Artic Ser 10 (1974) 19-29
4. Collodel G., Moretti E., Capitani S., Piomboni P., Anichini C., Estenoz M., et al. TEM, FISH and molecular studies in infertile men with pericentric inversion of chromosome 9. Andrologia 38 (2006) 122-127
5. Uehara S., Akai Y., Takeyama Y., Takabayashi T., Okamura K., Yajima A., et al. Pericentric inversion of chromosome 9 in prenatal diagnosis and infertility. J Exp Med 166 (1992) 417-427
6. Madon P.F., Athalye A.S., and Parikh F.R. Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Online 11 (2005) 726-732
7. Codina-Pascual M., Navarro J., Oliver-Bonet M., Kraus J., Speicher M.R., Arango O., et al. Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes. Hum Reprod 21 (2006) 1490-1497
8. Eiben B., Leipoldt M., Rammelsberg O., Krause W., and Engel W. High incidence of minor chromosomal variants in teratozoospermic males. Andrologia 19 (1987) 684-687
9. Teo S.H., Tan M., Knight L., Yeo S.H., and Ng I. Pericentric inversion 9-incidence and clinical significance. Ann Acad Med Singapore 24 (1995) 302-304
10. Srebniak M., Wawrzkiewicz A., Wiczkowski A., Kaźmierczak W., and Olejek A. Subfertile couple with inv(2), inv(9) and 16qh+. J Appl Genet 45 (2004) 477-479
11. Cortés-Gutiérrez E.I., Cerda-Flores R.M., Dávila-Rodríguez M.I., Hernández-Herrera R., Vargas-Villarreal J., and Leal-Garza C.H. Chromosomal abnormalities and polymorphisms in Mexican infertile men. Arch Androl 50 (2004) 261-265
12. Lahiri D.K., and Nurnberger Jr. J.I. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19 (1991) 5444
13. Umeno M., Shinka T., Sato Y., Yang X.J., Baba Y., Iwamoto T., et al. A rapid and simple system of detecting deletions on the Y chromosome related with male infertility using multiplex PCR. J Med Invest 53 (2006) 147-152
14. Morel F., Laudier B., Guérif F., Couet M.L., Royère D., Roux C., et al. Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization. Hum Reprod 22 (2007) 136-141
15. Solari A.J., Ponzio R., and ReyValzacchi G. Synaptonemal complex karyotyping in an oligospermic patient with heterochromatin duplication in chromosome n. 9. Medicina 51 (1991) 217-221
16. Barlow A.L., and Hultén M.A. Combined immunocytogenetic and molecular cytogenetic analysis of meiosis I human spermatocytes. Chromosome Res 4 (1996) 562-573
17. Sun F., Oliver-Bonet M., Liehr T., Starke H., Trpkov K., Ko E., et al. Discontinuities and unsynapsed regions in meiotic chromosomes have a cis effect on meiotic recombination patterns in normal human males. Hum Mol Genet 14 (2005) 3013-3018