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首页> 外文期刊>American journal of medical genetics, Part A >Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype.
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Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype.

机译:20q13三体性-> 20qter在患有多种先天性畸形和从父系倒位遗传的20号重组染色体的女孩中(20)(p13q13.1):临床报告和20三体性表型的综述。

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    摘要

    We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q.
    机译:我们报告了一名患者,该患者患有rec(20)dup(20q)染色体异常,该异常来自于父系20号染色体倒置[inv(20)(p13q13.1)]。重排导致20q13.1到20qter的重复和20p13到20pter的缺失。该患者是一个具有颅面部特征和多个先天性畸形的女孩,与先前在三体性20q综合征中描述的异常重叠。据我们所知,这是rec(20)dup 20q患者的首次报告。

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