Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review

Karatas, Omer; KAYA, Murat

doi:10.18678/dtfd.544991

Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review

Murat KAYA, (İstanbul Üniversitesi, İstanbul Tıp Fakültesi, Genetik Bölümü, İstanbul, Türkiye)

Ömer Faruk KARATAŞ (Erzurum Teknik Üniversitesi, Fen Fakültesi, Moleküler Biyoloji ve Genetik Bölümü, Erzurum, Türkiye)

Düzce Tıp Fakültesi Dergisi

12 1

Yıl: 2019 Cilt: 21 Sayı: 2 Sayfa Aralığı: 132 - 135 Metin Dili: İngilizce DOI: 10.18678/dtfd.544991 İndeks Tarihi: 16-12-2020

Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review

Öz:

Infertility, reported in 15% of the couples who want to have children, is an importantworldwide health problem. Recurrent miscarriage, observed in 15–25% of pregnancies, isanother important health issue affecting millions of couples in the world. Despite many geneticfactors have been associated with infertility or recurrent miscarriages especially in recent years,the genetic and epigenetic factors underlying these problems are mostly unknown. Most of thepericentric inversions do not affect phenotypes of the individuals carrying balancedrearrangements. However, the pericentric inversions may cause chromosomally unbalancedsperm/ovum during the meiotic crossover leading to infertility or recurrent miscarriages. Inthis case report, we report a familial pericentric inv(12)(p11.2q14) in eight individuals withinfertility or recurrent miscarriages in three different families.

Anahtar Kelime:

Perisentrik inv(12)(p11.2q14)’nin İnfertilite ve Tekrarlayan Düşüklerle İlişkisi: Vaka Örneği ve Literatür Taraması

Öz:

Çocuk sahibi olmak isteyen çiftlerin %15'inde görülen infertilite, tüm dünyada önemli bir sağlık sorunudur. Gebeliklerin %15-25'inde gözlenen tekrarlayan düşükler, dünya genelinde milyonlarca çifti etkileyen bir diğer önemli sorundur. Özellikle son yıllarda infertilite ya da tekrarlayan düşüklüklerle pek çok genetik faktör ilişkilendirilmiş olsa da, bu sorunların altında yatan genetik ve epigenetik faktörlerin çok büyük kısmı henüz bilinmemektedir. Perisentrik inversiyonların çoğu, taşıyıcı bireylerin fenotipini etkilemez. Bununla birlikte mayoz bölünmenin krosing over aşamasında hatalara neden olabilen perisentrik inversiyonlar infertiliteye veya tekrarlayan düşüklere yol açabilir. Bu olgu sunumu çalışmasında, üç farklı aileden sekiz bireyde tespit ettiğimiz pericentric inv(12)(p11.2q14)’ün infertilite ve tekrarlayan düşüklerle ilişkisi üzerinde durulmuştur.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

1. Kamel RM. Management of the infertile couple: an evidence-based protocol. Reprod Biol Endocrinol. 2010;8:21.
2. El Hachem H, Crepaux V, May-Panloup P, Descamps P, Legendre G, Bouet P-E. Recurrent pregnancy loss: current perspectives. Int J Womens Health. 2017;9:331-45.
3. Hyde KJ, Schust DJ. Genetic considerations in recurrent pregnancy loss. Cold Spring Harb Perspect Med. 2015;5(3):a023119.
4. Sturtevant AH. A case of rearrangement of genes in Drosophila. Proc Natl Acad Sci U S A. 1921;7(8):235-7.
5. Tayebi N, Khodaei H. A rare case of pericentric inversion, Inv (21) (p12;q22) in repeated pregnancy loss: A case report. Oman Med J. 2011;26(6):441-3.
6. Naseeb S, Carter Z, Minnis D, Donaldson I, Zeef L, Delneri D. Widespread impact of chromosomal inversions on gene xxpression uncovers robustness via phenotypic buffering. Mol Biol Evol. 2016;33(7):1679-96.
7. Luo Y, Xu C, Sun Y, Wang L, Chen S, Jin F. Different segregation patterns in five carriers due to a pericentric inversion of chromosome 1. Syst Biol Reprod Med. 2014;60(6):367-72.
8. Utami KH, Hillmer AM, Aksoy I, Chew EG, Teo AS, Zhang Z, et al. Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PLoS One. 2014;9(6):e90852.
9. Anton E, Vidal F, Egozcue J, Blanco J. Genetic reproductive risk in inversion carriers. Fertil Steril. 2006;85(3):661-6.
10. Puig M, Casillas S, Villatoro S, Cáceres M. Human inversions and their functional consequences. Brief Funct Genomics. 2015;14(5):369-79
11. 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 matepair sequencing. PLoS One. 2017;12(1):e0169935.
12. Prieto F, Badia L, Asensi F, Moya A, Figuera MJ. Pericentric inversions of chromosome 12 in two families. Hum Genet. 1981;57(2):131-3.
13. Varela M, Wang N, Cerrillo M. Prenatal diagnosis of a 46,XX,inv(12)pat/47,XX,i(Xq),inv(12)pat. Hum Genet. 1987;75(1):93-4.
14. Haagerup A, Hertz JM. Pericentric inversion of chromosome 12; a three family study. Hum Genet. 1992;89(3):292-4.
15. Singh RP. Klinefelter's syndrome with a 47,XXY, inv (12) (q15q24) karyotype. Clin Genet. 1981;19(3):188-90.
16. Silahtaroglu AN, Hacihanefioglu S, Güven GS, Cenani A, Wirth J, Tommerup N, et al. Not para-, not peri-, but centric inversion of chromosome 12. J Med Genet. 1998;35(8):682-4.
17. Voiculescu I, Barbi G, Wolff G, Steinbach P, Back E, Schempp W. Familial pericentric inversion of chromosome 12. Hum Genet. 1986;72(4):320-2.
18. Kim HJ, Levy J, Roguero W, Iu B, Wallach RC. Prenatal detection of pericentric inversion of chromosome 12. Diagn Gynecol Obstet. 1980;2(3):231-4.
19. Poulsen H, Mikkelsen M, Holmgren G. Peri- and paracentric inversions in chromosome 12: prenatal diagnosis and family study. Prenat Diagn. 1981;1(1):35-42.
20. Kleczkowska A, Fryns JP, Van den Berghe H. Pericentric inversions in man: personal experience and review of the literature. Hum Genet. 1987;75(4):333-8.
21. Uehara S, Tanigawara S, Takeyama Y, Okamura K, Yajima A. A family with pericentric inversion of chromosome 12. Jpn J Hum Genet. 1994;39(1):201-4.
22. Ghorbel M, Baklouti-Gargouri S, ElGhazel H, Zribi N, Ben Abdallah F, Cherif M, et al. Pericentric inversion of chromosom 12 [Inv (12) (p12q12)] associated with idiopathic azoospermia in one infertile Tunisian man. Biochem Biophys Res Commun. 2013;432(3):472-4.

APA	KAYA M, Karatas O (2019). Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review. , 132 - 135. 10.18678/dtfd.544991
Chicago	KAYA Murat,Karatas Omer Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review. (2019): 132 - 135. 10.18678/dtfd.544991
MLA	KAYA Murat,Karatas Omer Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review. , 2019, ss.132 - 135. 10.18678/dtfd.544991
AMA	KAYA M,Karatas O Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review. . 2019; 132 - 135. 10.18678/dtfd.544991
Vancouver	KAYA M,Karatas O Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review. . 2019; 132 - 135. 10.18678/dtfd.544991
IEEE	KAYA M,Karatas O "Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review." , ss.132 - 135, 2019. 10.18678/dtfd.544991
ISNAD	KAYA, Murat - Karatas, Omer. "Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review". (2019), 132-135. https://doi.org/10.18678/dtfd.544991

APA	KAYA M, Karatas O (2019). Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review. Düzce Tıp Fakültesi Dergisi, 21(2), 132 - 135. 10.18678/dtfd.544991
Chicago	KAYA Murat,Karatas Omer Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review. Düzce Tıp Fakültesi Dergisi 21, no.2 (2019): 132 - 135. 10.18678/dtfd.544991
MLA	KAYA Murat,Karatas Omer Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review. Düzce Tıp Fakültesi Dergisi, vol.21, no.2, 2019, ss.132 - 135. 10.18678/dtfd.544991
AMA	KAYA M,Karatas O Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review. Düzce Tıp Fakültesi Dergisi. 2019; 21(2): 132 - 135. 10.18678/dtfd.544991
Vancouver	KAYA M,Karatas O Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review. Düzce Tıp Fakültesi Dergisi. 2019; 21(2): 132 - 135. 10.18678/dtfd.544991
IEEE	KAYA M,Karatas O "Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review." Düzce Tıp Fakültesi Dergisi, 21, ss.132 - 135, 2019. 10.18678/dtfd.544991
ISNAD	KAYA, Murat - Karatas, Omer. "Association of Pericentric Inv(12)(p11.2q14) with Infertility and Recurrent Miscarriages: Case Report and Literature Review". Düzce Tıp Fakültesi Dergisi 21/2 (2019), 132-135. https://doi.org/10.18678/dtfd.544991