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复发性15q24.1微缺失综合征的另一病例及文献综述。

An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.

作者信息

L Ng Ivy S, Chin Wai-Hoe, P Lim Eileen C, Tan Ene-Choo

机构信息

Genetics Service, KK Women's and Children's Hospital, Singapore.

出版信息

Twin Res Hum Genet. 2011 Aug;14(4):333-9. doi: 10.1375/twin.14.4.333.

DOI:10.1375/twin.14.4.333
PMID:21787116
Abstract

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.

摘要

我们报告了一名9岁女孩,通过寡核苷酸阵列比较杂交技术鉴定出其15号染色体q24区域存在3 Mb的间质性缺失。她具有中国血统,具有先前报道的15q24缺失病例的一些典型特征,如轻度畸形伴发育和语言迟缓。她还患有轻度听力损失,此前另一病例也有该症状。我们比较了通过阵列比较基因组杂交技术鉴定出的所有19例病例。缺失发生在15q23至15q24.3的8.3 Mb区域内。最小重叠缺失区域小于0.5 Mb,位于72.3 Mb至72.7 Mb之间。文中讨论了该区域内九个注释基因的功能以及它们可能如何导致微缺失表型。

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An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis.15q24染色体微缺失综合征表型的推断性研究:自抽样分析
PeerJ. 2016 Feb 4;4:e1641. doi: 10.7717/peerj.1641. eCollection 2016.