Ring Chromosome 18: A Case Report
Ring Chromosome 18: A Case Report
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环染色体 18：病例报告
DOI：
10.1002/ajmg.a.33764
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发表时间：
2014
影响因子：
--
通讯作者：
Mohammad Hassanzadeh Nazarabadi
中科院分区：
文献类型：
--
作者：
Shermineh Heydari;Fahimeh Hassanzadeh;Mohammad Hassanzadeh Nazarabadi
环状染色体是一种罕见的染色体疾病，通常出现从头。当染色体两端因缺失而融合时，形成环状染色体。根据染色体缺失的数量，临床表现可能不同。因此，18环综合征的特征是严重的智力发育迟缓以及小头畸形，脑和眼畸形，肌张力减退和其他骨骼异常。我们报告一位2.5岁的病人，患有唇裂、畸形足、智力低下及隐睾症。染色体分析的G显带技术的基础上进行的患者转诊到细胞遗传学实验室。染色体核型为46，XY，r（18）（p11.32q21.32）。根据此类患者的临床特点，建议进行染色体检查。
Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformations, hypotonia and other skeletal abnormalities. Here we report a 2.5 years old patient with a cleft lip, club foot, mental retardation and cryptorchidism. Chromosomal analysis on the basis of G-banding technique was performed following patient referral to the cytogenetic laboratory. Chromosomal investigation appeared as 46, XY, r(18) (p11.32 q21.32). According to the clinical features of such patients, chromosome investigation is strongly recommended.