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首页> 外文期刊>American journal of medical genetics, Part A >A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features.
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A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features.

机译：在患有智力低下，焦虑症和自闭症的患者中鉴定出复杂的7q染色体重排。

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摘要

We have characterized a de novo complex rearrangement of the long arm of chromosome 7 in a female patient with moderate mental retardation (MR), anxiety disorder, and autistic features. G-banding suggested a de novo paracentric inversion 46,XX,inv(7)(q31.3q34). However, SNP-array analysis, showed a +/-10 Mb, 7q21.11-q21.3 deletion in the paternal chromosome. Subsequent FISH analysis with BAC/PAC clones in the 7q21-q35 region confirmed this deletion. However, the expected paracentric inversion turned out to be an intra-chromosomal insertion of the 7q31.31-q35 fragment into band 7q21.3, disrupting the predicted gene C7orf58 in band 7q31.31. Seven other patients have been previously reported with a deletion of 7q21.1-q21.3. Although there is an overlap in phenotype between our patient and these patients, none of them has been described with anxiety disorder and/or autistic features. Therefore we suggest that disruption of the C7orf58 gene might contribute to the anxiety disorder, and autistic features in our patient.
机译：我们的特征是患有中度智力低下（MR），焦虑症和自闭症特征的女性患者的7号染色体长臂从头开始复杂的重排。 G谱带表明从头反心了46，XX，inv（7）（q31.3q34）。但是，SNP阵列分析显示，父系染色体中有+/- 10 Mb，7q21.11-q21.3缺失。随后在7q21-q35区域使用BAC / PAC克隆进行的FISH分析证实了该缺失。但是，预期的副中心反转是7q31.31-q35片段在染色体内插入7q21.3带，从而破坏了7q31.31带的预测基因C7orf58。先前已经报道了另外7名患者的7q21.1-q21.3缺失。尽管我们的患者与这些患者在表型上有重叠，但没有人描述患有焦虑症和/或自闭症。因此，我们建议破坏C7orf58基因可能导致焦虑症和患者的自闭症特征。

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