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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Screening for subtle chromosomal rearrangements in an Egyptian sample of children with unexplained mental retardation
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Screening for subtle chromosomal rearrangements in an Egyptian sample of children with unexplained mental retardation

机译：筛查埃及人无法解释的智力低下儿童样本中的微小染色体重排

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Mental retardation is present in about 1–3% of individuals in the general population, but it can be explained in about half of the cases. A descriptive study was carried out to screen for subtle chromosomal rearrangements in a group of Egyptian children with idiopathic mental retardation (IMR) to estimate its frequency if detected. The study enrolled 30 patients with IMR, with the perquisite criteria of being <18years at referral, their IQ <70, and manifesting at least one of the criteria for selection of patients with subtelomeric abnormalities. Males were 63.3% and females were 36.7%, with a mean age of 7.08±4.22years. Full history taking, thorough clinical examination, IQ, visual, and audiological assessment, brain CT scan, plasma aminogram, pelvi-abdominal ultrasonography, echocardiography, and cytogenetic evaluation using routine conventional karyotyping, high resolution banding (HRB), and fluorescent in situ hybridization (FISH) technique with appropriate probes were carried out for all studied patients. All enrolled patients had apparently normal karyotypes within 450 bands resolution, except for one patient who had 46, XY, [del (18) (p11.2)]. HRB and FISH showed subtle chromosomal rearrangement in 10% of cases that have been proven to be subtelomeric in 2 cases, i.e., 6.8%: 46, XY, dup (17) (p13.3), 46, XY, del (2) (q36.1–36.3), and non-subtelomeric in one case, 5.5%, 46, XX, ins (7;?) (q22;?). To conclude, in children with IMR and clinical phenotype indicative of a suspected chromosomal anomaly, once recognizable syndromes have been excluded, abnormalities that include the ends of chromosomes must be searched for using HRB and subtelomeric FISH even when conventional karyotyping fails to demonstrate any abnormality.
机译：智力障碍在普通人群中约有1-3％，但可以在大约一半的病例中得到解释。进行了一项描述性研究，以筛查一组埃及特发性智力低下（IMR）儿童的微妙染色体重排，以评估其频率。该研究招募了30名IMR患者，其转诊时的<18岁年龄标准为智商<70，并且表现出至少一种选择亚端粒异常患者的标准。男性为63.3％，女性为36.7％，平均年龄为7.08±4.22岁。完整的历史记录，全面的临床检查，智商，视觉和听力学评估，脑部CT扫描，血浆氨基酸图，骨盆腹部超声检查，超声心动图检查以及使用常规常规核型分析，高分辨率条带（HRB）和荧光原位杂交的细胞遗传学评估（FISH）技术用适当的探针对所有研究的患者进行。除一名患者的46，XY，[del（18）（p11.2）]外，所有入组患者的核型均在450条带内。 HRB和FISH在10％的病例中显示出细微的染色体重排，已证实在2例中为亚端粒，即6.8％：46，XY，dup（17）（p13.3），46，XY，del（2） （q36.1–36.3），在一种情况下为非亚端粒，分别为5.5％，46，XX，ins（7 ;?）（q22 ;?）。总而言之，对于具有IMR和临床表型指示可疑染色体异常的儿童，一旦排除了可识别的综合征，就必须使用HRB和亚端粒FISH来搜索包括染色体末端在内的异常，即使常规核型无法证明任何异常也是如此。

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