Yildirim Malik Ejder, Karakus Savas, Kurtulgan Hande Kucuk, Baser Burak, Sezgin Ilhan
Cumhuriyet University, Faculty of Medicine, Department of Medical Genetics, Turkey.
Cumhuriyet University, Faculty of Medicine, Department of Obstetrics and Gynecology, Turkey.
J Gynecol Obstet Hum Reprod. 2019 Sep;48(7):521-525. doi: 10.1016/j.jogoh.2019.05.014. Epub 2019 May 11.
Chromosomal abnormalities are more common in the first trimester abortions. We aimed to investigate the types and prevalence of chromosomal abnormalities in couples with recurrent first trimester miscarriages in Sivas, Turkey.
Three hundred couples (600 individuals) who had a story of recurrent abortion were included in the study. Chromosome analysis was performed after the preparation of lymphocyte culture with the standard method. Karyotype analyses were supported by FISH and aCGH studies.
Total 26 chromosome abnormalities (8.7%) were found in the couples (19 females and 7 males). Fifteen cases (57.7%) were structural anomalies and eleven cases (42.3%) were numerical chromosomal aberrations. We detected 5 balanced translocations (33.3%), 4 Robertsonian translocations (26.7%), 3 inversions (20%), 2 duplications (13.3%) and one deletion (6.7%) among the structural anomalies. Mosaic monosomy X in five cases (45.4%), the combination of mosaic monosomy-trisomy X in three cases (27.3%), the combination of mosaic monosomy-trisomy and tetrasomy X in two cases (18.2%) and mosaic pentasomy X in only one individual (9.1%) were encountered as numerical chromosome aberrations. 19 cases had heterochromatic changes or other chromosomal variations (satellite increments and inv9).
Chromosome analysis in couples with recurrent miscarriage is necessary for possible preimplantation genetic diagnosis. As well as numerical and structural chromosome abnormalities, some chromosomal variations (heterochromatin and satellite increments etc.) may also contribute to recurrent miscarriages. Numerical chromosomal abnormalities are often associated with sex chromosomes and usually seen in females.
染色体异常在孕早期流产中更为常见。我们旨在调查土耳其锡瓦斯复发性孕早期流产夫妇中染色体异常的类型和患病率。
本研究纳入了300对（600人）有复发性流产病史的夫妇。采用标准方法制备淋巴细胞培养物后进行染色体分析。核型分析得到荧光原位杂交（FISH）和阵列比较基因组杂交（aCGH）研究的支持。
在这些夫妇中总共发现了26例染色体异常（8.7%）（19名女性和7名男性）。15例（57.7%）为结构异常，11例（42.3%）为染色体数目畸变。在结构异常中，我们检测到5例平衡易位（33.3%）、4例罗伯逊易位（26.7%）、3例倒位（20%）、2例重复（13.3%）和1例缺失（6.7%）。在染色体数目畸变中，5例（45.4%）为嵌合型X单体，3例（27.3%）为嵌合型X单体 - 三体组合，2例（18.2%）为嵌合型X单体 - 三体和四体组合，仅1例个体（9.1%）为嵌合型X五体。19例有异染色质变化或其他染色体变异（卫星增加和inv9）。
对于可能的植入前基因诊断，复发性流产夫妇进行染色体分析是必要的。除了染色体数目和结构异常外，一些染色体变异（异染色质和卫星增加等）也可能导致复发性流产。染色体数目异常通常与性染色体相关，且常见于女性。
