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4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.

作者信息

Stevenson David A, Carey John C, Cowley Brett C, Bayrak-Toydemir Pinar, Mao Rong, Brothman Arthur R

机构信息

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.

出版信息

J Pediatr. 2004 Dec;145(6):840-2. doi: 10.1016/j.jpeds.2004.08.027.

DOI:10.1016/j.jpeds.2004.08.027
PMID:15580214
Abstract

We report a de novo cryptic 11p duplication found by genomic microarray with a cytogenetically detected 4p deletion. Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of genomic microarray.

摘要

相似文献

1
4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.
J Pediatr. 2004 Dec;145(6):840-2. doi: 10.1016/j.jpeds.2004.08.027.
2
Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.产前检测到一名具有Wolf-Hirschhorn综合征表型的胎儿存在新发的4号染色体短臂末端反向重复。
Prenat Diagn. 2005 Jun;25(6):451-5. doi: 10.1002/pd.1154.
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Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.Wolf-Hirschhorn综合征关键区域的重复会导致神经发育迟缓。
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Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter.对一名4p15.3至4pter缺失的胎儿进行基于微阵列的比较基因组杂交分析以诊断Wolf-Hirschhorn综合征
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Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.Wolf-Hirschhorn综合征中缺失大小与临床表现的关系：13例新发缺失患者的分析
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"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.与4p16.3pter分子缺失相关的4p16.1p16.3染色体区域的“串联”重复导致了Wolf-Hirschhorn综合征表型。
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Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome.利用基于聚合酶链反应的多态性对4p缺失进行分子检测：一种快速检测沃夫-贺许宏氏症候群的技术。
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8
Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region.由于4p16.3 - p15.3反向重复包括沃尔夫-赫希霍恩关键区域导致的轻度表型。
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Wolf-Hirschhorn(4p-) syndrome.沃尔夫-赫希霍恩（4p-）综合征
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Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.Wolf-Hirschhorn综合征中4号染色体短臂缺失的亲本来源
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Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.导致11p15.5贝克威思-维德曼区域父系重复的隐匿性染色体改变的分子和基因组特征分析。
J Med Genet. 2006 Aug;43(8):e39. doi: 10.1136/jmg.2005.038398.