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Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH.

作者信息

Ochando Isabel, Urbano Antonio, Rubio Juana, Rueda Joaquín

机构信息

Unidad de Genética, Hospital Clínica Vistahermosa, Alicante.

出版信息

Appl Clin Genet. 2012 Sep 7;5:93-6. doi: 10.2147/TACG.S35799. Print 2012.

DOI:10.2147/TACG.S35799
PMID:23776384
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3681196/
Abstract

Phelan-McDermid syndrome is caused by the loss of terminal regions of different sizes at 22q13. There is a wide range of severity of symptoms in patients with a 22q13 deletion, but these patients usually show neonatal hypotonia, global developmental delay, and dysmorphic traits. We carried out a clinical and molecular characterization of a patient with neonatal hypotonia and dysmorphic features. Array-based comparative genomic hybridization showed an 8.24 Mb terminal deletion associated with a 0.20 Mb duplication. Characterization of patients with Phelan-McDermid syndrome both clinically and at the molecular level allows genotype-phenotype correlations that provide clues to help elucidate the clinical implications.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c0e/3681196/235a9aab159f/tacg-5-093f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c0e/3681196/38925e16aca9/tacg-5-093f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c0e/3681196/235a9aab159f/tacg-5-093f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c0e/3681196/38925e16aca9/tacg-5-093f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c0e/3681196/235a9aab159f/tacg-5-093f2.jpg

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2
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本文引用的文献

1
40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features.一名具有轻微表型特征的胎儿，其5号染色体5p13.1p15.33区域存在40 Mb重复，并伴有800 kb的末端缺失。
Eur J Med Genet. 2012 Feb;55(2):140-4. doi: 10.1016/j.ejmg.2011.12.004. Epub 2012 Jan 2.
2
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).缺失大小与重要表型之间的关联扩大了 Phelan-McDermid 综合征（22q13 缺失综合征）的感兴趣基因组区域。
J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7.
3
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
22q13.3 缺失综合征：使用 array CGH 的临床和分子分析。
Am J Med Genet A. 2010 Mar;152A(3):573-81. doi: 10.1002/ajmg.a.33253.
4
Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.22q13.3染色体缺失综合征，伴有新发的22q13.3间质隐匿性缺失，破坏了SHANK3基因。
Eur J Med Genet. 2009 Sep-Oct;52(5):328-32. doi: 10.1016/j.ejmg.2009.05.004. Epub 2009 May 18.
5
Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.间质22q13缺失：除SHANK3基因外，其他基因对认知和语言发育有重大影响。
Eur J Hum Genet. 2008 Nov;16(11):1301-10. doi: 10.1038/ejhg.2008.107. Epub 2008 Jun 4.
6
Deletion 22q13.3 syndrome.22q13.3缺失综合征
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7
Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.因易位（21；22）导致的22号染色体长臂远端片段隐匿性重复：三例病例报告并文献复习
Eur J Med Genet. 2006 Sep-Oct;49(5):384-95. doi: 10.1016/j.ejmg.2006.01.005. Epub 2006 Feb 9.
8
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