儿童22号染色体多余衍生综合征1例

R. V. Olennikova, O. I. Rytenkova, A. Volkov
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引用次数: 0

摘要

在这里,我们描述了一个罕见的异常核型与多余的衍生染色体der(22)t(11;22),与伊曼纽尔综合征,在1岁的男孩。家族细胞遗传学分析显示,该异常来自母体易位t(11;22) (q23;q11.2)。在检查时,孩子有许多发育异常,面部畸形,外生殖器小。此外,由于脑损伤,精神运动发育明显延迟。我们试图通过概括文献中描述的伊曼纽尔综合征的病例,对患者健康的风险进行全面分析。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of supernumerary derivative chromosome 22 syndrome in a child
Here we describe a rare case of an abnormal karyotype with a supernumerary derivative chromosome der(22)t(11;22), associated with Emanuel syndrome, in a boy aged 1 year. Familial cytogenetic analysis revealed the maternal origin of the anomaly from reciprocal translocation t(11;22) (q23;q11.2). At the time of the examination, the child had numerous anomalies of development, facial dysmorphia, and a small size of the external genitalia. In addition, there was a pronounced delay in psychomotor development because of the brain damage. We made an attempt to perform a comprehensive analysis of the risks to the patient's health by generalizing the cases of Emanuel syndrome described in the literature.
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