Abstract
İnversiyon, bir kromozomda iki farklı kromozomal
bölgenin kırılması ve ardından kırılan parçanın 180° dönerek kırık bölgesine
tekrar yapışması ile oluşur. Perisentrik ve parasentrik olmak üzere iki tip
inversiyon vardır. Perisentrik inversiyonlar çoğunlukla dengeli kromozom
anomalisi olarak oluştuğu için fenotipi etkilemezler ancak perisentrik inversiyon
taşyıcılarının dengesiz gamet üretme olasılığının artmasına bağlı olarak bu
bireylerin anomalili çocuk sahibi olma riskleri de artmaktadır. Bu olgu
sunumunda birimimize tekrarlayan düşük nedeniyle başvuran olguda saptanan
inv(17)(p11.2q12) kromozom anomalisi üzerinde durulmaktadır
References
- 1- El Hachem H, Crepaux V, May-Panloup P, Descamps P, Legendre G, Bouet P-E. Recurrent pregnancy loss: current perspectives. International Journal of Women’s Health. 2017;9:331-345.
- 2- Sturtevant AH. Genetic factors affecting the strength of linkage in Drosophila. Proc Natl Acad Sci USA 1917;3:555–8.
- 3- Puig M, Casillas S, Villatoro S, Cáceres M. Human inversions and their functional consequences. Brief Funct Genomics. 2015 Sep;14(5):369-79.
- 4- Morin SJ, Eccles J, Iturriaga A, Zimmerman RS. Translocations, inversions and other chromosome rearrangements. Fertil Steril. 2017 Jan;107(1):19-26.
- 5- Utami KH, Hillmer AM, Aksoy I, et al. Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders. El-Maarri O, ed. PLoS ONE. 2014;9(3):e90852.
- 6- Aristidou C, Koufaris C, Theodosiou A, Bak M, Mehrjouy MM, Behjati F et al. Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing. PLoS One. 2017 Jan 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- Gardner, R.I.M., and Sutherland, G.R.,Chromosome abnormalities and Genetic Counseling. Newyork; Oxford Univ. Press 1996.
Abstract
Inversion
is an intra-chromosomal rearrangement resulting from a two-break event occurring
on the chromosome, followed by the insertion of the cromosomal fragment after a
180° rotation. The reare two types of chromosomal inversions: pericentric and paracentric.
Pericentric inversions mostly do not affect the phenotype because they lead to balanced
chromosomal anomalies. As the probability of producing unbalanced gametes of
perisentric inversion carriers is higher, the risk of having children with anomalies
increases. In this case report, inv (17) (p11.2q12) chromosomal anomaly which
is found in our case with miscarriages, is emphasized.
References
- 1- El Hachem H, Crepaux V, May-Panloup P, Descamps P, Legendre G, Bouet P-E. Recurrent pregnancy loss: current perspectives. International Journal of Women’s Health. 2017;9:331-345.
- 2- Sturtevant AH. Genetic factors affecting the strength of linkage in Drosophila. Proc Natl Acad Sci USA 1917;3:555–8.
- 3- Puig M, Casillas S, Villatoro S, Cáceres M. Human inversions and their functional consequences. Brief Funct Genomics. 2015 Sep;14(5):369-79.
- 4- Morin SJ, Eccles J, Iturriaga A, Zimmerman RS. Translocations, inversions and other chromosome rearrangements. Fertil Steril. 2017 Jan;107(1):19-26.
- 5- Utami KH, Hillmer AM, Aksoy I, et al. Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders. El-Maarri O, ed. PLoS ONE. 2014;9(3):e90852.
- 6- Aristidou C, Koufaris C, Theodosiou A, Bak M, Mehrjouy MM, Behjati F et al. Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing. PLoS One. 2017 Jan 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- Gardner, R.I.M., and Sutherland, G.R.,Chromosome abnormalities and Genetic Counseling. Newyork; Oxford Univ. Press 1996.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Clinical Sciences |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | December 3, 2019 |
| Published in Issue | Year 2019 Volume: 3 Issue: 3 |
Cite
Ahi Evran Medical Journal is indexed in ULAKBIM TR Index, Turkish Medline, DOAJ, Index Copernicus, EBSCO and Turkey Citation Index. Ahi Evran Medical Journal is periodical scientific publication. Can not be cited without reference. Responsibility of the articles belong to the authors.
