Balanced Chromosomal Translocation of Chromosomes 6 and 7: A Rare Male Factor of Spontaneous Abortions
Öz
Background: Carriers of structural chromosomal rearrangements such as Robertsonian or reciprocal translocations have an increased risk of spontaneous abortion and producing offspring with genetic abnormalities. Case Report: We report a man with balanced chromosomal translocations located at 6p22, and 7q22. His wife has a history of four spontaneous abortions. Conclusion: Couples with a history of abortions should be investigated cytogenetically, after other causes of miscarriages are excluded. The possibility of spontaneous abortions can be reduced with preimplantation genetic diagnosis (PGD) before embryo transfer. Turkish Başlık: Kromozom 6 ve 7'nin Dengeli Koromozomal Yer Değiştirmesi: Spontan Düşüklerin Nadir Bir Erkek Faktörü Anahtar Kelimeler: Dengeli kromozomal yer değiştirme, spontan düşükler, implantasyon öncesi genetik tanı Arka Plan: Robertsonian veya karşılıklı (reciprocal) yer değiştirmeler (translokasyonlar) gibi yapısal kromozomal yeniden düzenleme taşıyıcılığı, genetik anormallikler ile döllenme veya spontan düşük için artmış bir riske sahiptir. Olgu Sunumu: 6p22, and 7q22 lokalizasyonlu dengeli kromozomal yerdeğiştirmeleri olan bir erkek bildiriyoruz. Karısının dört spontan düşüğü bulunmaktadır. Sonuç: Düşük öyküsü olan çiftler, düşüğe sebep olabilecek diğer nedenler dışlandıktan sonra sitogenetik olarak araştırılmalıdır. Spontan düşüklerin olasılığı embriyo transferi öncesinde implantasyon öncesi genetik tanı ile azaltılabilmektedir.
Anahtar Kelimeler
Balanced chromosomal translocation spontaneous abortions preimplantation genetic diagnosis
Kaynakça
- 1. Cramer DW, Wise LA. The epidemiology of recurrent pregnancy loss. Semin Reprod Med 2000;18:331-9. [CrossRef]
- 2. Tunç E, Demirhan O, Demir C, Tastemir D. Cytogenetic study of recurrent miscarriages and their parents. Genetika 2007;43:545-52.
- 3. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. Chromosomes preparations of leucocytes cultured from human peripheral blood. Exp Cell Res 1960;20:613-6. [CrossRef]
- 4. Martin RH, Hultén M. Chromosome complements in 695 sperm from three men heterozygous for reciprocal translocations, and a review of the literature. Hereditas 1993;118:165-75. [CrossRef]
- 5. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, et al. Cytogenetics of infertile men. Hum Reprod 1996;11:1-24. [CrossRef]
- 6. Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune JP, Briault S, et al. Chromosomal factors of infertility in candidate couples for ICSI:an equal risk of constitutional aberrations in women and men. Hum Reprod 2001;16:82-90. [CrossRef]
- 7. Jacobs PA, Frackiewicz A, Law P. Incidence and mutation rates of structural rearrangements of the autosomes in man. Ann Hum Genet 1972;35:301-19. [CrossRef]
- 8. Kyu Lim C, Hyun Jun J, Mi Min D, Lee HS, Young Kim J, Koong MK, et al. Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations:the Korean experience. Prenat Diagn 2004;24:556-61. [CrossRef]
Balanced Chromosomal Translocation of Chromosomes 6 and 7: A Rare Male Factor of Spontaneous Abortions
Öz
Kaynakça
- 1. Cramer DW, Wise LA. The epidemiology of recurrent pregnancy loss. Semin Reprod Med 2000;18:331-9. [CrossRef]
- 2. Tunç E, Demirhan O, Demir C, Tastemir D. Cytogenetic study of recurrent miscarriages and their parents. Genetika 2007;43:545-52.
- 3. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. Chromosomes preparations of leucocytes cultured from human peripheral blood. Exp Cell Res 1960;20:613-6. [CrossRef]
- 4. Martin RH, Hultén M. Chromosome complements in 695 sperm from three men heterozygous for reciprocal translocations, and a review of the literature. Hereditas 1993;118:165-75. [CrossRef]
- 5. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, et al. Cytogenetics of infertile men. Hum Reprod 1996;11:1-24. [CrossRef]
- 6. Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune JP, Briault S, et al. Chromosomal factors of infertility in candidate couples for ICSI:an equal risk of constitutional aberrations in women and men. Hum Reprod 2001;16:82-90. [CrossRef]
- 7. Jacobs PA, Frackiewicz A, Law P. Incidence and mutation rates of structural rearrangements of the autosomes in man. Ann Hum Genet 1972;35:301-19. [CrossRef]
- 8. Kyu Lim C, Hyun Jun J, Mi Min D, Lee HS, Young Kim J, Koong MK, et al. Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations:the Korean experience. Prenat Diagn 2004;24:556-61. [CrossRef]
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Şubat 2013 |
| Yayımlandığı Sayı | Yıl 2013 Cilt: 2013 Sayı: 2 |