en ارتباط بین سقط فراموش شده و ترانسلوکاسیون در ارتباط با کروموزوم های 1 و 7 Original Article Original Article <strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;">مقدمه:</span></span></strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> سقط فراموش شده (سقط خاموش) به مرگ داخل رحمی جنین قبل از هفته 20 حاملگی اطلاق می</span></span><span dir="LTR"><span style="font-size:11.0pt;">&shy;</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">شود</span></span><span dir="LTR"><span style="font-size:11.0pt;">.</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> از مهم</span></span><span dir="LTR"><span style="font-size:11.0pt;">&shy;</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">ترین علت</span></span><span dir="LTR"><span style="font-size:11.0pt;">&shy;</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">های سقط فراموش شده زودرس (قبل از هفته 10 حاملگی)، ناهنجاری</span></span><span dir="LTR"><span style="font-size:11.0pt;">&shy;</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">های سیتوژنتیک می</span></span><span dir="LTR"><span style="font-size:11.0pt;">&shy;</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">باشد. </span></span><br> <strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;">هدف:</span></span></strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> هدف این مطالعه </span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">بررسی ارتباط بین اختلالات کروموزومی (بخصوص در کروموزوم 7) و سقط فراموش شده در بین حداقل 2 نسل بود.</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"></span></span><br> <strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;">مواد و روش&shy;ها:</span></span></strong> <span style="font-family:b mitra;"><span style="font-size:11.0pt;">بعد از حذف علت&shy;های مشخص سقط&shy;های فراموش شده، تعداد 60 زن با سقط فراموش شده در تریمستر اول حاملگی ب</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">ه </span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">عنوان گروه مورد و تعداد 30 زن سالم که هیچ بیماری در حین حاملگی نداشته و حاملگی نرمال داشتند، بعنوان گروه کنترل در نظر گرفته شدند. نمونه خون و بافت از مادران و جنین&shy;های سقط شده در دپارتمان زنان و زایمان، بیمارستان زنان دانشگاه عین الشمس جمع&shy;آوری گردید. مطالعات سیتوژنتیک بوسیله تکنیک&shy;های مرسوم و باندینگ </span></span><span dir="LTR"><span style="font-size:11.0pt;">GIT</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> و </span></span><span dir="LTR"><span style="font-size:11.0pt;">FISH</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> حاوی پروب کامل کرموزوم 7 (</span></span><span dir="LTR"><span style="font-size:11.0pt;">WCP7</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">) و پروب نزدیک انتهای </span></span><span dir="LTR"><span style="font-size:11.0pt;">7q (7q36, qter)</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> انجام پذیرفت.</span></span><strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;"></span></span></strong><br> <strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;">نتایج: </span></span></strong><span style="font-family:b mitra;"><span style="font-size:11.0pt;">مطالعات کروموزومی با </span></span><span dir="LTR"><span style="font-size:11.0pt;">G-banding</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;"> در مورد تمامی خانواده&shy;ها تا 3 نسل (شامل جنین سقط&shy;شده) انجام شد. نتایج کاملا معنی&shy;داری بین مادران و جنین&shy;های سقط&shy;شده پیدا گردید (0/005</span></span><span dir="LTR"><span style="font-size:11.0pt;">p<</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">). کاریوتیپ غیرطبیعی در 20% مادران پیدا شد که 8/33% آن&shy;ها ترانسلوکاسیون داخل شده بین کروموزوم&shy;های 1 و 7 بود </span></span><span dir="LTR"><span style="font-size:11.0pt;">(46, XX, ins. (1; 7) (p32; q32.35)</span></span><span style="font-family:b mitra;"><span style="font-size:11.0pt;">. این اختلال در 3 نسل 2 خانواده و 3 نسل یک خانواده پیدا شد.</span></span><br> <strong><span dir="RTL"><span style="font-family:b mitra;"><span style="font-size:11.0pt;">نتیجه&shy; گیری: </span></span></span></strong><span dir="RTL"><span style="font-family:b mitra;"><span style="font-size:11.0pt;">ترانسلوکاسیون داخل شده کروموزوم 7 یک ناهنجاری احتمالی اتوزومی غالب می&shy;باشد که می&shy;تواند باعث سقط جنین فراموش شده شود.</span></span></span> <strong>Background:</strong> Missed abortion (Silent miscarriage) is defined as intrauterine fetal death before twenty weeks gestation. One of the most common causes of early missed abortions (before 10 weeks gestation) is cytogenetic abnormalities.<br> <strong>Objective:</strong> To asses if there is a correlation between chromosomal aberrations (especially in chromosome 7) and missed abortion among at least two generations.<br> <strong>Materials and Methods: </strong>After exclusion of direct causes of missed abortion, this study included 60 women (the study group) who had first trimestric missed abortion and 30 healthy women who did not suffer from any diseases during their pregnancy and had apparently normal outcome (the control group). All cases were diagnosed; the blood and tissue samples were collected from the mothers and abortuses from the Department of Obstetrics and Gynecology, Maternity Hospital, Ain Shams University. Cytogenetic analyses were performed by using conventional technique and G/T banding techniques and Fluorescence In Situ Hybridization (FISH) analysis with a whole chromosome 7 painting probe (WCP7) and a 7q subterminal probe (7q36, qter), prepared by chromosome micro dissection technique was used for confirming the specific chromosomal abnormality.<br> <strong>Results: </strong>Chromosomal analysis by G-banding technique was carried out in all families through three generations including the abortuses. We found highly statistical significant difference between maternal and abortal abnormal karyotype (p?0.005), where abnormal maternal karyotype was detected in 20% cases, 8.33% of them had insertional translocation between chromosomes 1 and 7 (46, XX, ins. (1; 7) (p32; q32.35). This insertion has appeared in two families and among two generations, and in one family among three generations.<br> <strong>Conclusion:</strong> Chromosome 7 insertional translocation is a possible autosomal dominant inherited trait and may cause missed abortion. سقط فراموش شده, اختلالات کروموزومی, FISH Missed abortion, Maternal chromosomal aberrations, Fluorescence In Situ Hybridization. 15 22 http://ijrm.ir/browse.php?a_code=A-10-100-266&slc_lang=en&sid=1 Neveen Ashaat neveen_asem @yahoo.com Yes Department of Zoology, Faculty of Women for Arts, Science and Education, Ain Shams University, Cairo, Egypt Ahmed Husseiny No Department of Obstetrics and Gynecology, Maternity Hospital, Ain Shams University, Cairo, Egypt