Soltani Narjes, Mirzaei Farzaneh, Ayatollahi Hossein
Department of Hematology and Blood Bank, Faculty of Medicine, Cancer Molecular Pathology Research Center, Ghaem Medical Center Mashhad University of Medical Sciences, Mashhad, Iran.
Medical Genetic Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Iran J Pathol. 2021 Fall;16(4):418-425. doi: 10.30699/IJP.2021.521514.2554. Epub 2021 Jul 6.
BACKGROUND & OBJECTIVE: One of the major genetic causes of recurrent spontaneous abortions is parental chromosomal abnormalities. The objectives of the study were to determine, compare and analyze the incidence and distribution of chromosomal abnormalities in couples with recurrent miscarriages from Northeastern Iran.
This study was conducted at Ghaem Hospital, Mashhad, Iran. We evaluated karyotype results of 608 couples with history of recurrent spontaneous abortion. The standard method was used for culturing peripheral venous blood lymphocytes.
Chromosome aberrations were detected in 43 patients (3.54%), including 25 females and 18 males. Structural chromosomal abnormality was detected in 40 cases, including balanced translocations (25 cases), robertsonian translocations (4 cases), inversions (10 cases) and numerical chromosome aberrations (3 cases). Polymorphic variants were observed in 22 individuals.
The frequency of chromosomal abnormalities in couples with Recurrent Spontaneous Abortion (RSA) in our study is 3.54%. Reciprocal translocation, pericentric inversions, robertsonian translocations, and numerical abnormality observed among couples who had experienced recurrent spontaneous abortions and that these couples might benefit from cytogenetic analysis.
反复自然流产的主要遗传原因之一是父母染色体异常。本研究的目的是确定、比较和分析伊朗东北部反复流产夫妇中染色体异常的发生率和分布情况。
本研究在伊朗马什哈德的加姆医院进行。我们评估了608对有反复自然流产病史夫妇的核型结果。采用标准方法培养外周静脉血淋巴细胞。
在43例患者(3.54%)中检测到染色体畸变,其中女性25例,男性18例。在40例中检测到结构染色体异常,包括平衡易位(25例)、罗伯逊易位(4例)、倒位(10例)和染色体数目畸变(3例)。在22例个体中观察到多态性变异。
在我们的研究中,反复自然流产(RSA)夫妇中染色体异常的发生率为3.54%。在经历过反复自然流产的夫妇中观察到相互易位、臂间倒位、罗伯逊易位和数目异常,这些夫妇可能从细胞遗传学分析中受益。