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首页> 外文期刊>Twin research and human genetics : >An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.
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An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.

机译：另一例复发的15q24.1微缺失综合征病例和文献复习。

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摘要

We report a 9-year-old girl with 3 Mb interstitial deletion of chromosome 15q24 identified by oligonucleotide array comparative hybridization. She is of Chinese ancestry and shared some typical features of previously reported 15q24 deletion cases such as mild dysmorphism with developmental and speech delay. She also had mild hearing loss that was reported in one other case. We compared all 19 cases that are identified from array-CGH. The deletion occurred within an 8.3 Mb region from 15q23 to 15q24.3. The minimum overlapping deleted region is less than 0.5 Mb from 72.3 Mb to 72.7 Mb. The functions of the nine annotated genes within the region and how they might contribute to the microdeletion phenotype are discussed.
机译：我们报告了一个9 Mg，通过寡核苷酸阵列比较杂交鉴定的染色体15q24具有3 Mb间隙缺失的女孩。她是中国人，具有以前报道的15q24缺失病例的一些典型特征，例如轻度的同种异体症以及发育和语言延迟。她还患有轻度听力下降，另一例也有报道。我们比较了从阵列CGH鉴定的所有19个病例。删除发生在15q23至15q24.3的8.3 Mb区域内。从72.3 Mb到72.7 Mb，最小重叠删除区小于0.5 Mb。讨论了该区域内9个带注释基因的功能以及它们如何对微缺失表型作出贡献。

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