Conclusion: Prenatal and postnatal cytogenetic analysis of balanced translocation carriers is very important for genetic counseling of their families and relatives.
📌 3 Key Takeaways
🎯
Objective & Hypothesis:Objective: To study the aborted material of patients complaining from habitual abortion.
📊
Key Findings & Data:Study Design: Aborted materials obtained from ninety patients, having $\geq3$ spontaneous pregnancy losses, and the parents of the cases that balanced chromosomal translocations were diagnosed were included in this study for cytogenetic analysis.
💡
Conclusion & Impact:Conclusion: Prenatal and postnatal cytogenetic analysis of balanced translocation carriers is very important for genetic counseling of their families and relatives.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Düşük · tekrarlayan · Amniyosentez
Abstract
Objective: To study the aborted material of patients complaining from habitual abortion. Study Design: Aborted materials obtained from ninety patients, having $\geq3$ spontaneous pregnancy losses, and the parents of the cases that balanced chromosomal translocations were diagnosed were included in this study for cytogenetic analysis. Results: Spontaneous aborted materials were studied and in 8.8% of the materials structural chromosomal abnormalities were found. Conclusion: Prenatal and postnatal cytogenetic analysis of balanced translocation carriers is very important for genetic counseling of their families and relatives.
ERGÜN, M. A., SOYSAL, Y., AKAY, G. D., İMİRZALIOĞLU, N. (2005). The importance of genetic counseling in couples complaining from habitual abortions. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 11 - Sayı: 2, 90–92. https://ajindex.com/articles/227132
Hussein S. Qublan HS. Habitual abortion: causes, diagnosis, and treatment. Reviews in Gynaecological Practice 2003; 3:75-80. 2.Goddijn M, Leschot NJ. Genetic aspects of miscarriage. Baillieres Best Pract Res Clin Obstet Gynaecol 2000; 14:855-65. 3.Goldman AS, Hulten MA. Analysis of chiasma frequency and first meiotic segregation in a human male reciprocal translocation heterozygote, t (1; 11) (p36.3; q13.1), using fluorescence in situ hybridisation. Cytogenet. Cell Genet 1992; 63:16-23. 4.Martini E, von Bergh AR, Coonen E, de Die-Smulders CE, Hopman AH, Ramaekers FC, Geraedts JP. Detection of structural abnormalities in spermatozoa of a translocation carrier t (3; 11) (q27.3; q24.3) by triple FISH. Hum Genet 1998; 102:157-65. 5.Coonen E, Martini E, Dumoulin JC, et al. Preimplantation genetic diagnosis of a reciprocal translocation t (3;11) (q27.3; q24.3) in siblings. Mol Hum Reprod 2000;6:199-206. 6.Balci S, Kanra G, Aypar E, Son YA. Twenty-nail dystrophy in a mother and her 7-year-old daughter associated with balanced translocation 46, XX, t (6q13; 10p13). Clin Dysmorphol 2002; 11:171-3. 7.Barisic I, Zergollern L, Muzinic D, Hitrec V. Risk estimates for balanced reciprocal translocation carriers-prenatal diagnosis experience. Clin Genet 1996; 49:145-51. 8.Farrell S A, Fan YS. Balanced nonacrocentric whole-arm reciprocal translocations: a de novo case and literature review. Am J Med Genet 1995; 55:423-6. 9.Fortuny A, Carrio A, Soler A, Cararach J, Fuster J, Sala mi C. Detection of balanced chromosome rearrange ments in 445 couples with repeated abortion and cytogenetic prenatal testing in carriers. Fertil Steril 1998;49:774-9. 10.Martin RH, Hulten M. Chromosome complements in 695 sperm from three men heterozygous for reciprocal translocations, and a review of the literature. Hereditas 1993; 118:165-75.