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Beckwith-Wiedemann syndrome. Clinical comparison between patients with and without 11p15 trisomy.

作者信息

Turleau C, de Grouchy J

出版信息

Ann Genet. 1985;28(2):93-6.

PMID:2994545
Abstract

Thirteen previously unreported patients with Beckwith-Wiedemann syndrome are reported. They include two unrelated patients having developed nephroblastoma, and three sibs. High resolution banding techniques failed to show any evidence of trisomy 11p15 in any of these 13 patients. The clinical pictures of Beckwith-Wiedemann syndrome with and without trisomy 11p15 are compared.

摘要

相似文献

1
Beckwith-Wiedemann syndrome. Clinical comparison between patients with and without 11p15 trisomy.
Ann Genet. 1985;28(2):93-6.
2
Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases.11号染色体短臂15区三体与贝克威思-维德曼综合征。两例新病例报告。
Ann Genet. 1985;28(2):97-101.
3
Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.11号染色体短臂15区三体与贝克威思-维德曼综合征。两例报告。
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4
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6
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Eur J Med Genet. 2005 Apr-Jun;48(2):159-66. doi: 10.1016/j.ejmg.2005.01.017. Epub 2005 Mar 2.
7
Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome.染色体区域11p15上等位基因的功能性拷贝过量可能会导致威德曼-贝克威思综合征（EMG）。
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Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p.
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[The Wiedemann-Beckwith syndrome and a congenital cataract].[威德曼-贝克威思综合征与先天性白内障]
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Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms' tumour.佩尔曼综合征和威德曼-贝克威思综合征：与肾母细胞瘤相关的两种不同病症。
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引用本文的文献

1
Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes.过表达胰岛素样生长因子-II（IGF-II）的小鼠突变胚胎表现出贝克威思-维德曼综合征和辛普森-戈拉比-贝梅尔综合征的表型特征。
Genes Dev. 1997 Dec 1;11(23):3128-42. doi: 10.1101/gad.11.23.3128.
2
Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.父系遗传的11p15.5重复与贝克威思-维德曼综合征。
J Med Genet. 1997 Oct;34(10):819-26. doi: 10.1136/jmg.34.10.819.
3
Uniparental disomy occurs infrequently in Wilms tumor patients.
单亲二体在肾母细胞瘤患者中很少发生。
Am J Hum Genet. 1994 Feb;54(2):282-9.
4
Wiedemann-Beckwith syndrome.威德曼-贝克威思综合征
Eur J Pediatr. 1988 Jun;147(5):450-7. doi: 10.1007/BF00441965.
5
Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma.与贝克威思-维德曼综合征相关且可能与肾上腺皮质癌易感性有关的11p15.5区域的分子定义。
Hum Genet. 1989 Feb;81(3):273-7. doi: 10.1007/BF00279003.
6
Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours.导致肾母细胞瘤11号染色体杂合性缺失的遗传改变的分子本质。
Hum Genet. 1988 Dec;81(1):41-8. doi: 10.1007/BF00283727.
7
Loss of alleles on the short arm of chromosome 11 in a hepatoblastoma from a child with Beckwith-Wiedemann syndrome.
Hum Genet. 1988 Jun;79(2):186-9. doi: 10.1007/BF00280564.
8
Beckwith-wiedemann syndrome and neural crest tumors. A report of two cases.贝克威思-维德曼综合征与神经嵴肿瘤。两例报告。
Pediatr Radiol. 1989;19(4):242-5. doi: 10.1007/BF02386843.
9
Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13. Subdivision of the WAGR complex region.
Hum Genet. 1989 May;82(2):171-8. doi: 10.1007/BF00284053.
10
Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma.
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