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首页> 外文期刊>Balkan journal of medical genetics: BJMG >CYTOGENETIC FINDINGS IN MENTALLY RETARDED IRANIAN PATIENTS
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CYTOGENETIC FINDINGS IN MENTALLY RETARDED IRANIAN PATIENTS

机译：精神发育迟缓的伊朗患者的细胞遗传学发现

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We conducted a cytogenetic study on 865 individuals with idiopathic mental retardation (MR) who were admitted to the Cytogenetics Department of the Iran Blood Transfusion Organisation (IBTO) Research Centre, Tehran, Iran; these were performed on blood samples using conventional staining methods. Chromosome anomalies were identified in 205 of the patients (23.6%). The majority were Down's syndrome cases (n = 138). In 33 males, a positive fragile X anomaly was found .The remainder (n = 34) had other chromosomal abnormalities including structural chromosome aberrations (n = 23), marker chromosomes with an unknown origin (n = 3), sex chromosome aneuploidy (n = 6) and trisomy 18 (n = 2). The contribution of chromosome aberrations to the cause of MR in this group of patients is discussed. Mental retardation (MR) is characterized by destruction in intellectual abilities, and by an inability to adapt to the environment and the social situation. Mental retardation is found in individuals either as an isolated finding, or as part of an underlying disorder. The worldwide prevalence of MR is about 2.3% . Despite large studies being conducted to discover the etiology of MR, in less than 50% of MR cases is the cause identified and the genetic defect known to be responsible for 17-47% of MR cases, It is known that numerical and structural chromosomal anomalies are one of the most common causes of MR seen in these patients.
机译：我们对865名特发性智力低下（MR）的个体进行了细胞遗传学研究，这些个体被送入伊朗德黑兰的伊朗输血组织（IBTO）研究中心的细胞遗传学部门;这些是使用常规染色方法在血样上进行的。在205例患者中发现了染色体异常（23.6％）。大多数为唐氏综合症病例（n = 138）。在33位男性中，发现了一个脆弱的X染色体阳性，其余（n = 34）还有其他染色体异常，包括结构性染色体畸变（n = 23），来源未知的标记染色体（n = 3），性染色体非整倍性（n = 6）和18三体（n = 2）。讨论了这组患者中染色体畸变对MR病因的影响。智力低下（MR）的特征是智力能力受到破坏，并且无法适应环境和社会状况。在个体中发现智力低下是一个孤立的发现，或者是潜在疾病的一部分。 MR的全球患病率约为2.3％。尽管进行了大量研究以发现MR的病因，但在不到50％的MR病例中已查明了原因，并且已知遗传缺陷导致MR病例占17-47％。已知数字和结构染色体异常是这些患者中最常见的MR病因之一。

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