Olgu Sunumu
BibTex RIS Kaynak Göster
Yıl 2019, Cilt: 2 Sayı: 2, 39 - 42, 30.05.2019

Öz

Kaynakça

  • 1. Lindsay TJ, Vitrikas KR. Evaluation and treatment of infertility. Am Fam Physician 2015;91(5):308- 314.
  • 2. Kaya M, Suer İ, Öztürk Ş et al. Case Report: a novel chromosomal insertion, 46, XY, inv ins(18;2)(q11.2;q13q22), in a patient with infertility and mild intellectual disability [version 1]. F1000Research 2019;8:281.
  • 3. Morin SJ, Eccles J, Iturriaga A et al. Translocations, inversions and other chromosome rearrangements. Fertil Steril 2017;107(1):19-26.
  • 4. Utami KH, Hillmer AM, Aksoy I et al. Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PLoS ONE 2014;9(3):e90852.
  • 5. Zhang H, Wang R, Li L et al. Clinical feature of infertile men carrying balanced translocations involving chromosome 10: Case series and a review of the literature. Medicine(Baltimore) 2018;97(15):e0452.
  • 6. Aristidou C, Koufaris C, Theodosiou A et al. Accurate breakpoint mapping in apparently balanced translocation families with discordant phenotypes using whole genome mate-pair sequencing. PLoS One 2017;10;12(1).
  • 7. Feuk L. Inversion variants in the human genome: role in disease and genome architecture. Genome Med 2010;2(2):11.
  • 8. Lango Allen H, Caswell R, Xie W et al. Next generation sequencing of chromosomal rearrangements in patients with split-hand/splitfoot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. J Med Genet 2014;51(4):264-267.
  • 9. Dong Z, Wang H, Chen H et al. Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. Genet Med 2017;20(7):697-707.

De Novo İnv(8)(p21q24.1) Taşıyan İnfertil Bir Olgu

Yıl 2019, Cilt: 2 Sayı: 2, 39 - 42, 30.05.2019

Öz

İnversiyon, kromozomun iki farklı noktasından kırılması ve sonrasında kırılan kromozomal parçanın 180° dönerek kırık bölgeye tekrar yapışması ile oluşur. İnversiyonlar, perisentrik ve parasentrik olmak üzere iki alt grupta incelenir. Perisentrik inversiyonlar genelde dengeli kromozom anomalisi şeklinde karşımıza çıkar. Bu nedenle, perisentrik inversiyon taşıyan bireylerin fenotipinin etkilenme ihtimali düşüktür. Buna rağmen perisentrik inversiyon taşıyıcıları, kromozomal dengesiz gamet üretebilirler. Bu durumda, infertil olabilir veya anomalisi olan çocuk sahibi olabilirler. Bu olgu sunumunda, bilim dalımıza infertilite şikayetiyle başvuran bir olguda saptanan inv(8)(p21q24.1) kromozom anomalisi üzerinde durulmaktadır.

Kaynakça

  • 1. Lindsay TJ, Vitrikas KR. Evaluation and treatment of infertility. Am Fam Physician 2015;91(5):308- 314.
  • 2. Kaya M, Suer İ, Öztürk Ş et al. Case Report: a novel chromosomal insertion, 46, XY, inv ins(18;2)(q11.2;q13q22), in a patient with infertility and mild intellectual disability [version 1]. F1000Research 2019;8:281.
  • 3. Morin SJ, Eccles J, Iturriaga A et al. Translocations, inversions and other chromosome rearrangements. Fertil Steril 2017;107(1):19-26.
  • 4. Utami KH, Hillmer AM, Aksoy I et al. Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PLoS ONE 2014;9(3):e90852.
  • 5. Zhang H, Wang R, Li L et al. Clinical feature of infertile men carrying balanced translocations involving chromosome 10: Case series and a review of the literature. Medicine(Baltimore) 2018;97(15):e0452.
  • 6. Aristidou C, Koufaris C, Theodosiou A et al. Accurate breakpoint mapping in apparently balanced translocation families with discordant phenotypes using whole genome mate-pair sequencing. PLoS One 2017;10;12(1).
  • 7. Feuk L. Inversion variants in the human genome: role in disease and genome architecture. Genome Med 2010;2(2):11.
  • 8. Lango Allen H, Caswell R, Xie W et al. Next generation sequencing of chromosomal rearrangements in patients with split-hand/splitfoot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. J Med Genet 2014;51(4):264-267.
  • 9. Dong Z, Wang H, Chen H et al. Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. Genet Med 2017;20(7):697-707.
Toplam 9 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Olgu sunumu
Yazarlar

Murat Kaya

Yayımlanma Tarihi 30 Mayıs 2019
Kabul Tarihi 19 Nisan 2019
Yayımlandığı Sayı Yıl 2019 Cilt: 2 Sayı: 2

Kaynak Göster

APA Kaya, M. (2019). De Novo İnv(8)(p21q24.1) Taşıyan İnfertil Bir Olgu. Tıp Fakültesi Klinikleri Dergisi, 2(2), 39-42.


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