On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.

作者信息

Miyake Noriko, Harada Naoki, Shimokawa Osamu, Ohashi Hirofumi, Kurosawa Kenji, Matsumoto Tadashi, Fukushima Yoshimitsu, Nagai Toshiro, Shotelersuk Vorasuk, Yoshiura Ko-Ichiro, Ohta Tohru, Kishino Tatsuya, Niikawa Norio, Matsumoto Naomichi

机构信息

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

出版信息

Am J Med Genet A. 2004 Jul 15;128A(2):170-2. doi: 10.1002/ajmg.a.30137.

DOI:10.1002/ajmg.a.30137

PMID:15214010

Abstract

摘要

相似文献

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.

Am J Med Genet A. 2004 Jul 15;128A(2):170-2. doi: 10.1002/ajmg.a.30137.

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.基于阵列的比较基因组杂交（CGH）和荧光原位杂交（FISH）未能证实与歌舞伎综合征相关的8p22-p23.1重复。

J Med Genet. 2005 Jan;42(1):49-53. doi: 10.1136/jmg.2004.024372.

Is the locus for Costello syndrome on 11p?科斯特洛综合征的基因座在11号染色体短臂上吗？

J Med Genet. 2003 Jun;40(6):469-71. doi: 10.1136/jmg.40.6.469.

Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41.歌舞伎综合征并非由位于1q32-q41的范德伍德综合征关键区域附近的微缺失引起。

Am J Med Genet. 1999 Sep 17;86(3):285-8. doi: 10.1002/(sici)1096-8628(19990917)86:3<285::aid-ajmg18>3.0.co;2-e.

Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients.

Am J Med Genet A. 2005 Jan 30;132A(3):276-7. doi: 10.1002/ajmg.a.30457.

Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.揭开歌舞伎综合征的面纱：通过比较基因组杂交和BAC-FISH揭示的8号染色体p22 - p23.1重复

Clin Genet. 2003 Dec;64(6):509-16. doi: 10.1046/j.1399-0004.2003.00189.x.

A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome.

Clin Genet. 2008 May;73(5):502-3. doi: 10.1111/j.1399-0004.2008.00983.x. Epub 2008 Mar 11.

BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome.BAC-FISH技术驳斥了关于8例歌舞伎综合征患者存在8p22 - 8p23.1倒位或重复的报告。

BMC Med Genet. 2006 May 18;7:46. doi: 10.1186/1471-2350-7-46.

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.

Eur J Hum Genet. 2005 May;13(5):690-3. doi: 10.1038/sj.ejhg.5201383.

Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.一名具有类似歌舞伎综合征特征的患者出现8p22 - 8p23重复。

Am J Med Genet A. 2006 Jan 15;140(2):170-3. doi: 10.1002/ajmg.a.31036.

引用本文的文献

Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association.一名患有歌舞伎综合征表型儿童的X等臂染色体嵌合体：一种罕见的细胞遗传学关联。

Indian J Hum Genet. 2011 Sep;17(3):241-3. doi: 10.4103/0971-6866.92089.

The C20orf133 gene is disrupted in a patient with Kabuki syndrome.在一名歌舞伎综合征患者中，C20orf133基因发生了破坏。

BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.06.2009.1994. Epub 2009 Jun 30.

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.类歌舞伎综合征患者的阵列比较基因组杂交：鉴定出两名具有复杂重排的患者，包括2q37缺失且无其他复发性畸变。

BMC Med Genet. 2008 Apr 11;9:27. doi: 10.1186/1471-2350-9-27.

Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia.歌舞伎综合征的眼部表现：沙特阿拉伯的首例报告。

Int Ophthalmol. 2008 Apr;28(2):131-4. doi: 10.1007/s10792-007-9118-x. Epub 2007 Aug 16.

The C20orf133 gene is disrupted in a patient with Kabuki syndrome.一名歌舞伎综合征患者的C20orf133基因发生了破坏。

J Med Genet. 2007 Sep;44(9):562-9. doi: 10.1136/jmg.2007.049510. Epub 2007 Jun 23.

BMC Med Genet. 2006 May 18;7:46. doi: 10.1186/1471-2350-7-46.

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.直接传递的不平衡染色体异常和常染色质变异

J Med Genet. 2005 Aug;42(8):609-29. doi: 10.1136/jmg.2004.026955.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验