@2024 Afarand., IRAN
ISSN: 2251-8215 Sarem Journal of Reproductive Medicine 2018;2(2):45-50
ISSN: 2251-8215 Sarem Journal of Reproductive Medicine 2018;2(2):45-50
Prevalence of Chromosome Inversions (Pericentric and Paracentric) in Patients with Recurrent Abortions
ARTICLE INFO
Article Type
Original ResearchAuthors
Abdi A. (1)Bagherizadeh I. (1)
Shajare pour L. (1)
Ideh B. (1)
Hadi pour Z. (1)
Hadi pour F. (1)
Shafaghti Y. (2)
Behjati F. (*)
(*) “Sarem Fertility & Infertility Research Center (SAFIR)” and “Sarem Cell Research Center (SCRC)” , Sarem Women’s Hospital, Tehran, Iran
(1) Medical Genetic Department, Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran
(2) “Sarem Fertility & Infertility Research Center (SAFIR)” and “Sarem Cell Research Center (SCRC)” , Sarem Women’s Hospital, Tehran, Iran
Correspondence
Article History
Received: February 20, 2016Accepted: May 19, 2017
ePublished: June 15, 2018
ABSTRACT
Aims
Recurrent abortions comprise almost 15% of diagnosed pregnancies. Chromosomal inversions, as a type of chromosomal rearrangements can result in abortion or the birth of abnormal neonates. The aim of this study was to evaluate the prevalence of chromosome inversions (pericentric and paracentric) in patients with recurrent abortions.
Materials & Methods This descriptive study was conducted on 2299 couples with recurrent abortions referred to Sarem women’s hospital (Tehran, Iran) during 2006 to 2014. The structure of autosomal and sex chromosomes were studied using high resolution GTG banding and C banding techniques.
Findings In total, 49 (2.1%) patients showed chromosomal inversions. Pericentric inversion around centromere of chromosome 9 (p11.2q13) was observed in 29 patients (1.26%). Chromosomal inversions were found in heterochromatin region of chromosome 1 in one patient and chromosome Y in one other patient. Pericentric inversion of chromosome 2 was also found in one patient. Chromosomal inversion involving other autosomal chromosomes included pericentric inversion of chromosomes 1, 5, 8, 11 and 12, and paracentric inversion of chromosomes 3, 6, 7, 8, and 12 (0.44%).
Conclusion The prevalence of pericentric and paracentric chromosomal inversions in patients with abortion history is 2.1%. The rate of pericentric inversions of chromosome 9 in p11.2q13regions is 1.26% that is similar to the normal populations and it has no clinical significance.
Materials & Methods This descriptive study was conducted on 2299 couples with recurrent abortions referred to Sarem women’s hospital (Tehran, Iran) during 2006 to 2014. The structure of autosomal and sex chromosomes were studied using high resolution GTG banding and C banding techniques.
Findings In total, 49 (2.1%) patients showed chromosomal inversions. Pericentric inversion around centromere of chromosome 9 (p11.2q13) was observed in 29 patients (1.26%). Chromosomal inversions were found in heterochromatin region of chromosome 1 in one patient and chromosome Y in one other patient. Pericentric inversion of chromosome 2 was also found in one patient. Chromosomal inversion involving other autosomal chromosomes included pericentric inversion of chromosomes 1, 5, 8, 11 and 12, and paracentric inversion of chromosomes 3, 6, 7, 8, and 12 (0.44%).
Conclusion The prevalence of pericentric and paracentric chromosomal inversions in patients with abortion history is 2.1%. The rate of pericentric inversions of chromosome 9 in p11.2q13regions is 1.26% that is similar to the normal populations and it has no clinical significance.
CITATION LINKS
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[2]Daniel A, Hook EB, Wulf G. Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: Data from United States and Canadian laboratories. Am J Med Genet. 1989;33(1):14-53.
[3]McKinlay Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling. 4th edition. Oxford: Oxford University Press; 2011. p. 648.
[4]Sılan F, Yalcıntepe S, Uysal D, Urfalı M, Uludag A, Cosar E, et al. High frequency of chromosomal anomalies and a novel chromosomal insertion associated with infertility and recurrent miscarriages (Reproductive failure) in West Turkey. Gene Ther Mol Biol. 2014;16:139-48.
[5]Sohrabi M. Genetics and molecular Biology. Tehran: Pooran Pazhoohesh; 2012. p. 552. [Persian] 6- Celep F, Karagüzel A. Pericentric inversion in chromosome 2 (p11q13) in two cases. East J Med. 2008;13(1):35-7.
[6]Celep F, Karagüzel A. Pericentric inversion in chromosome 2 (p11q13) in two cases. East J Med. 2008;13(1):35-7.
[7]Drabova J, Trkova M, Hancarova M, Novotna D, Hejtmankova M, Havlovicova M, et al. A 15 mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications. Mol Cytogenet. 2014;7:51.
[8]Behjati F. Laboratory manuals in human cytogenetics. Tehran: University of Social Welfare and Rehabilitation SeiencesPublication; 1386. [Persian]
[9]Pellegrini SAP, Ribeiro MCM, Kahn E, De Barros GL, Rodrigues MA, De Paula Coutinho M, et al. Familial study of paracentric inversion in chromosome 3p. Br J Med Med Res. 2013;3(3):760-70.
[10]Farcas S, Belengeanu V, Stoian M, Stoicanescu D, Popa C, Andreescu N. Considerations regarding the implication of polymorphic variants and chromosomal inversions in recurrent miscarriage. Off J Romanian Soci Pediatr Surg. 2007;X(39-40):7-11. [Romanian]
[11]Karaman A, Paşa U. Cytogenetic analysis of couples with recurrent miscarriages: A series of 316 cases. New J Med. 2013;30(1):30-2.
[12]Ternpenny PD. Emery’s element of medical genetics. 14th edition. Akbari MT, translator. Tehran: Andisheh Rafi; 2012. [Persian]
[2]Daniel A, Hook EB, Wulf G. Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: Data from United States and Canadian laboratories. Am J Med Genet. 1989;33(1):14-53.
[3]McKinlay Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling. 4th edition. Oxford: Oxford University Press; 2011. p. 648.
[4]Sılan F, Yalcıntepe S, Uysal D, Urfalı M, Uludag A, Cosar E, et al. High frequency of chromosomal anomalies and a novel chromosomal insertion associated with infertility and recurrent miscarriages (Reproductive failure) in West Turkey. Gene Ther Mol Biol. 2014;16:139-48.
[5]Sohrabi M. Genetics and molecular Biology. Tehran: Pooran Pazhoohesh; 2012. p. 552. [Persian] 6- Celep F, Karagüzel A. Pericentric inversion in chromosome 2 (p11q13) in two cases. East J Med. 2008;13(1):35-7.
[6]Celep F, Karagüzel A. Pericentric inversion in chromosome 2 (p11q13) in two cases. East J Med. 2008;13(1):35-7.
[7]Drabova J, Trkova M, Hancarova M, Novotna D, Hejtmankova M, Havlovicova M, et al. A 15 mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications. Mol Cytogenet. 2014;7:51.
[8]Behjati F. Laboratory manuals in human cytogenetics. Tehran: University of Social Welfare and Rehabilitation SeiencesPublication; 1386. [Persian]
[9]Pellegrini SAP, Ribeiro MCM, Kahn E, De Barros GL, Rodrigues MA, De Paula Coutinho M, et al. Familial study of paracentric inversion in chromosome 3p. Br J Med Med Res. 2013;3(3):760-70.
[10]Farcas S, Belengeanu V, Stoian M, Stoicanescu D, Popa C, Andreescu N. Considerations regarding the implication of polymorphic variants and chromosomal inversions in recurrent miscarriage. Off J Romanian Soci Pediatr Surg. 2007;X(39-40):7-11. [Romanian]
[11]Karaman A, Paşa U. Cytogenetic analysis of couples with recurrent miscarriages: A series of 316 cases. New J Med. 2013;30(1):30-2.
[12]Ternpenny PD. Emery’s element of medical genetics. 14th edition. Akbari MT, translator. Tehran: Andisheh Rafi; 2012. [Persian]