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PERİSENTRİK İNVERSİYON 9 GÖZLENEN OLGULARIN DEĞERLENDİRİLMESİ

Year 2012, Volume: 21 Issue: 2, 82 - 86, 01.06.2012

Abstract

İnversiyon 9, genellikle fenotipik özellik göstermeyen önemli bir yapısal düzensizlik olarak görülmektedir. Çalışma, inversiyon 9’un etkilerini ve önemini değerlendirmek amacıyla laboratuvarımızda saptanan 62 inversiyon 9 olgusu üzerinde yapılmıştır. Çalışmamızda Ondokuz Mayıs Üniversitesi Tıp Fakültesi Tıbbi Biyoloji Anabilim Dalı, Tıbbi Genetik Bilim Dalı sitogenetik laboratuvarında 2000-2010 yılları arasında sitogenetik analizi yapılan 4131 olgudan karyotipinde perisentrik inversiyon saptanan 62 olgu değerlendirmeye alınmıştır. Karyotip analizi periferik kan lenfositlerinden standart yöntemle yapılmıştır. Her hasta için GTG (tripsin giemsa G-bantlama) ve C (sentromer) bantlama yöntemiyle hazırlanmış 20 metafaz incelenmiştir. Altmış iki olguda perisentrik inversiyon 9 saptandı. Altmış iki inv (9) olgusundan 27’si (% 43.5), tekrarlayan düşüğü olanlarda, 17’si (% 27,4) amniyosentez yapılanlarda, dört’ü (% 6.45) konjenital anomalilerde, iki’si (% 3.22) gelişme ve mental geriliği olanlarda, 2’si (% 3.22) primer ve sekonder amenorelilerde, üç’ü (% 4.83) cinsiyet anomalilerde ve 3’ü (% 4.83) düşük materyallerinde gözlendi. Sonuçta, inversiyon 9 taşıyıcılarının dengesiz gametler oluşturması nedeniyle sıklıkla tekrarlayan düşüklere neden olduğu görüldü. Bununla birlikte, inversiyon 9’un, konjenital anomaliler, amenore, gelişim ve mental geriliği olanlarda gözlenmesi, inversiyonun kromozomun hangi kırık noktalarında oluştuğunun önemini göstermiştir

References

  • Rao BV, Kerketta L, Korgaonkar S, Ghosh K. Pericentric inversion of chromosome 9 [inv (9)(p12q13]: Its association with genetic diseases. Int J Hum Genet 2006;12(3):129-32.
  • Verma RS, Babu A (ed). Humans Chromosomes Principles an Techniques. McGraw-Hill, Inc.New York, USA; 1995; 6- 71.
  • Tomas E, Michael L, John S, Mireia S and Santiago M.Preimplantation genetic diagnosis of pericentric inversions. Prenat Diagn 2001; 21:760-766.
  • Kaiser P. Pericentric inversion. J Med Genet 1984; 26:95–101.
  • Ait-Allah AS, Ming PL, Salem HT and Reece EA.The Clinical Importance of Pericentric Inversion of Chromosome 9 in Prenatal Diagnosis. J Matern Fetal Invest 1997; 7:126- 28.
  • Manola K N, Harhalakis N, Symeonidis A and et al. Constitutional pericentric inversion of chromosome 9 and hematopoietic recovery after allogeneic stem cell transplantation Ann Hematol 2006;85:611–15.
  • Yüce H., Özbey Ü, Etem E ve ark. İnversiyon 9 Açısından 41 Olgunun Değerlendirilmesi Turkiye Klinikleri J Med Sci 2008;28:765-68.
  • Hsu LY, Benn PA, Tannenbaum HL, Perlis TE, Carlson AD. Chromosomal polymorphism of 1,9,16,and Y in 4 major ethnic groups; a large prenatal study. Am J Med Genet 1987;26:95-101.
  • Seon-Yong Jeong, Bo-Young Kim, Jae Eun Yu. De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly. Yonsei Med J 2010;51:775-80.
  • Kim J., Lee J, Hwang J., Hong KEM. Behavioral and Developmental Characteristics of Children with Inversion of Chromosome 9 in Korea: A Preliminary Study. Child Psych and Hum Develop 2005;35:347-57.
  • Shaffer L.G, Tommerup N., 2005. An international system for human cytogenetic nomenclature, S.Karger, Basel.
  • Humpray SJ., Oliver K., Hunt AR., et al. DNA sequence and analysis of human chromosome 9. Nature 2004;429:369-74.
  • Starke H., Seidel J., Henn W.,et al. Homologous sequencesat human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet 2002;10:790-800.
  • Capková P, Adamová K, Santavá A et al. [Importance of genetic testing in couples with reproductive disorders]. Ceska Gynekol 2004;69:66-71.
  • Mokhtar MM. Chromosomal aberrations in children with suspected genetic disorders. East Mediterr Health J 1997;3:114-22.
  • Tsunehisa M, Toshio T, Koji N et al. Chromosomal analysis in Japanese couples with repeated spontaneous abortions. Int J Fertil 1990;35:200-10.

Evaluation of Cases with Inversion 9

Year 2012, Volume: 21 Issue: 2, 82 - 86, 01.06.2012

Abstract

Inversion 9 is generally accepted an important structural chromosomal rearrangement that does not generally reflect any phenotypic evidence. In this study we evaluated the significance and influences of inversion 9 on 62 cases inversion 9 determined in laboratuary. In our study, of 4131 cases analysed for cytogenetic analysis, 62 were evaluated since they had been detected to have inversion 9 in their karyotypes, in Department of Medical Biology, Division of Medical Genetics between 2000 and 2010. The karyotype analyses of 62 cases were made from peripheral blood lymphocytes by standard method. Twenty metaphases prepaed by GTG and C banding were examined for each patient. Inv (9) was detected in 62 cases. Sixty two cases with inversion 9 were detected in 27(43.5%) cases with recurrent miscarriages, in 17 (27.4) cases who were advised amniosynthesis, in four (6.45%) cases with congenital anomalies, in three (4.83%) cases who had abortion, in two (3.22%) cases with primer/secondary amenorrhea and in two (3.22%) cases with mental retardation respectively. The significance of the inversion 9 was discussed in view of the literature. It was shown that carriers of inversion 9 have frequently recurrent miscarriages because of forming unbalanced gametes. However, observation of inversion 9 in congenital anomaly, amenorrhea, development and mental retardation cases showed the importance of inversion’s breakpoints

References

  • Rao BV, Kerketta L, Korgaonkar S, Ghosh K. Pericentric inversion of chromosome 9 [inv (9)(p12q13]: Its association with genetic diseases. Int J Hum Genet 2006;12(3):129-32.
  • Verma RS, Babu A (ed). Humans Chromosomes Principles an Techniques. McGraw-Hill, Inc.New York, USA; 1995; 6- 71.
  • Tomas E, Michael L, John S, Mireia S and Santiago M.Preimplantation genetic diagnosis of pericentric inversions. Prenat Diagn 2001; 21:760-766.
  • Kaiser P. Pericentric inversion. J Med Genet 1984; 26:95–101.
  • Ait-Allah AS, Ming PL, Salem HT and Reece EA.The Clinical Importance of Pericentric Inversion of Chromosome 9 in Prenatal Diagnosis. J Matern Fetal Invest 1997; 7:126- 28.
  • Manola K N, Harhalakis N, Symeonidis A and et al. Constitutional pericentric inversion of chromosome 9 and hematopoietic recovery after allogeneic stem cell transplantation Ann Hematol 2006;85:611–15.
  • Yüce H., Özbey Ü, Etem E ve ark. İnversiyon 9 Açısından 41 Olgunun Değerlendirilmesi Turkiye Klinikleri J Med Sci 2008;28:765-68.
  • Hsu LY, Benn PA, Tannenbaum HL, Perlis TE, Carlson AD. Chromosomal polymorphism of 1,9,16,and Y in 4 major ethnic groups; a large prenatal study. Am J Med Genet 1987;26:95-101.
  • Seon-Yong Jeong, Bo-Young Kim, Jae Eun Yu. De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly. Yonsei Med J 2010;51:775-80.
  • Kim J., Lee J, Hwang J., Hong KEM. Behavioral and Developmental Characteristics of Children with Inversion of Chromosome 9 in Korea: A Preliminary Study. Child Psych and Hum Develop 2005;35:347-57.
  • Shaffer L.G, Tommerup N., 2005. An international system for human cytogenetic nomenclature, S.Karger, Basel.
  • Humpray SJ., Oliver K., Hunt AR., et al. DNA sequence and analysis of human chromosome 9. Nature 2004;429:369-74.
  • Starke H., Seidel J., Henn W.,et al. Homologous sequencesat human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet 2002;10:790-800.
  • Capková P, Adamová K, Santavá A et al. [Importance of genetic testing in couples with reproductive disorders]. Ceska Gynekol 2004;69:66-71.
  • Mokhtar MM. Chromosomal aberrations in children with suspected genetic disorders. East Mediterr Health J 1997;3:114-22.
  • Tsunehisa M, Toshio T, Koji N et al. Chromosomal analysis in Japanese couples with repeated spontaneous abortions. Int J Fertil 1990;35:200-10.
There are 16 citations in total.

Details

Other ID JA75YB34NZ
Journal Section Research Article
Authors

Mehmet Elbistan This is me

Tural Şengül This is me

Nurten Kara This is me

Nevin Karakuş This is me

Davut Güven This is me

Publication Date June 1, 2012
Submission Date June 1, 2012
Published in Issue Year 2012 Volume: 21 Issue: 2

Cite

APA Elbistan, M., Şengül, T., Kara, N., Karakuş, N., et al. (2012). PERİSENTRİK İNVERSİYON 9 GÖZLENEN OLGULARIN DEĞERLENDİRİLMESİ. Sağlık Bilimleri Dergisi, 21(2), 82-86.
AMA Elbistan M, Şengül T, Kara N, Karakuş N, Güven D. PERİSENTRİK İNVERSİYON 9 GÖZLENEN OLGULARIN DEĞERLENDİRİLMESİ. JHS. June 2012;21(2):82-86.
Chicago Elbistan, Mehmet, Tural Şengül, Nurten Kara, Nevin Karakuş, and Davut Güven. “PERİSENTRİK İNVERSİYON 9 GÖZLENEN OLGULARIN DEĞERLENDİRİLMESİ”. Sağlık Bilimleri Dergisi 21, no. 2 (June 2012): 82-86.
EndNote Elbistan M, Şengül T, Kara N, Karakuş N, Güven D (June 1, 2012) PERİSENTRİK İNVERSİYON 9 GÖZLENEN OLGULARIN DEĞERLENDİRİLMESİ. Sağlık Bilimleri Dergisi 21 2 82–86.
IEEE M. Elbistan, T. Şengül, N. Kara, N. Karakuş, and D. Güven, “PERİSENTRİK İNVERSİYON 9 GÖZLENEN OLGULARIN DEĞERLENDİRİLMESİ”, JHS, vol. 21, no. 2, pp. 82–86, 2012.
ISNAD Elbistan, Mehmet et al. “PERİSENTRİK İNVERSİYON 9 GÖZLENEN OLGULARIN DEĞERLENDİRİLMESİ”. Sağlık Bilimleri Dergisi 21/2 (June 2012), 82-86.
JAMA Elbistan M, Şengül T, Kara N, Karakuş N, Güven D. PERİSENTRİK İNVERSİYON 9 GÖZLENEN OLGULARIN DEĞERLENDİRİLMESİ. JHS. 2012;21:82–86.
MLA Elbistan, Mehmet et al. “PERİSENTRİK İNVERSİYON 9 GÖZLENEN OLGULARIN DEĞERLENDİRİLMESİ”. Sağlık Bilimleri Dergisi, vol. 21, no. 2, 2012, pp. 82-86.
Vancouver Elbistan M, Şengül T, Kara N, Karakuş N, Güven D. PERİSENTRİK İNVERSİYON 9 GÖZLENEN OLGULARIN DEĞERLENDİRİLMESİ. JHS. 2012;21(2):82-6.