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11号染色体短臂13区缺失/无虹膜肾母细胞瘤

Del11p13/nephroblastoma without aniridia.

作者信息

Turleau C, de Grouchy J, Nihoul-Fékété C, Dufier J L, Chavin-Colin F, Junien C

出版信息

Hum Genet. 1984;67(4):455-6. doi: 10.1007/BF00291410.

DOI:10.1007/BF00291410
PMID:6092262
Abstract

A patient is reported with del11p13, low catalase level, nephroblastoma, chordee and cryptorchidism, no evident mental retardation, and with normal irides. This unique observation suggests the following order of loci in 11p13, from centromere to telomere: catalase, Wilms tumor, aniridia. The chromosomal origin of nephroblastoma may be more frequent than estimated on the basis of its association with aniridia.

摘要

据报道,一名患者存在11p13缺失、过氧化氢酶水平低、肾母细胞瘤、尿道下裂和隐睾症,无明显智力发育迟缓,虹膜正常。这一独特观察结果提示11p13中从着丝粒到端粒的基因座顺序如下:过氧化氢酶、肾母细胞瘤、无虹膜。肾母细胞瘤的染色体起源可能比基于其与无虹膜关联所估计的更为常见。

相似文献

1
Del11p13/nephroblastoma without aniridia.11号染色体短臂13区缺失/无虹膜肾母细胞瘤
Hum Genet. 1984;67(4):455-6. doi: 10.1007/BF00291410.
2
Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature.11p/无虹膜复合体缺失。三例患者报告及文献中37例观察资料综述。
Clin Genet. 1984 Oct;26(4):356-62. doi: 10.1111/j.1399-0004.1984.tb01071.x.
3
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex.过氧化氢酶(CAT)基因定位于11p13带。与无虹膜-威尔姆斯瘤-性腺母细胞瘤(WAGR)综合征相关。
Ann Genet. 1980;23(3):165-8.
4
[Bilateral nephroblastoma with aniridia].
Arch Fr Pediatr. 1986 Feb;43(2):119-21.
5
Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.过氧化氢酶与威尔姆斯瘤 - 无虹膜、泌尿生殖系统异常和智力发育迟缓三联症基因座在染色体11p1305----p1306区域的定位。
Hum Genet. 1984;66(2-3):181-5. doi: 10.1007/BF00286597.
6
Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes.伴有无虹膜/虹膜发育异常且染色体明显正常的肾母细胞瘤。
J Pediatr. 1982 Apr;100(4):574-7. doi: 10.1016/s0022-3476(82)80755-5.
7
Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1.伴有11p13 - 14.1缺失的无虹膜 - 威尔姆斯瘤综合征的家族性发生情况。
J Pediatr. 1980 Jun;96(6):1027-30. doi: 10.1016/s0022-3476(80)80630-5.
8
[Combination of nephroblastoma and aniridia in a child with congenital deletion of chromosome 11].
Genetika. 1981;17(7):1315-7.
9
11p13 deletion and reduced RBC catalase in a patient with aniridia, glaucoma and bilateral Wilms' tumor.
Tumori. 1985 Apr 30;71(2):119-21. doi: 10.1177/030089168507100205.
10
[Chromosome 11 and cancer].
J Genet Hum. 1983 Mar;31(1):31-6.

引用本文的文献

1
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.无虹膜患者分子细胞遗传学研究揭示的频繁染色体畸变
Am J Hum Genet. 2002 Nov;71(5):1138-49. doi: 10.1086/344396. Epub 2002 Oct 17.
2
A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.一种采用荧光原位杂交(FISH)技术来界定WAGR基因座缺失范围及其可能临床意义的方法。
J Med Genet. 1997 Mar;34(3):207-12. doi: 10.1136/jmg.34.3.207.
3
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

本文引用的文献

1
ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS.肾母细胞瘤与无虹膜、半侧肥大及其他先天性畸形的关联
N Engl J Med. 1964 Apr 30;270:922-7. doi: 10.1056/NEJM196404302701802.
2
Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity.涉及11p13的染色体异常与红细胞过氧化氢酶活性降低。
Hum Genet. 1982;60(4):373-5. doi: 10.1007/BF00569223.
3
Catalase determination in various etiologic forms of Wilms' tumor and gonadoblastoma.不同病因类型的肾母细胞瘤和性腺母细胞瘤中过氧化氢酶的测定
孟德尔细胞遗传学。与孟德尔疾病相关的染色体重排。
J Med Genet. 1993 Sep;30(9):713-27. doi: 10.1136/jmg.30.9.713.
4
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.HRAS1 选择的染色体转移产生了与无虹膜和泌尿生殖系统发育异常相关的易位断点以及位于 11p13 带内的威尔姆斯瘤基因共定位的标记。
Proc Natl Acad Sci U S A. 1987 Aug;84(15):5355-9. doi: 10.1073/pnas.84.15.5355.
5
Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions.利用无虹膜-威尔姆斯瘤相关缺失对11号染色体短臂上的DNA探针进行区域定位。
Hum Genet. 1987 Feb;75(2):180-7. doi: 10.1007/BF00591083.
6
Use of catalase polymorphisms in the study of sporadic aniridia.过氧化氢酶多态性在散发性无虹膜症研究中的应用。
Hum Genet. 1986 Jun;73(2):171-4. doi: 10.1007/BF00291609.
7
Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome.
Proc Natl Acad Sci U S A. 1985 Dec;82(24):8592-6. doi: 10.1073/pnas.82.24.8592.
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Rapid isolation of moderate and highly polymorphic DNA fragments mapping close to WT (Wilms' tumour) and AN2 (aniridia) on chromosome 11.
Hum Genet. 1989 Mar;81(4):349-52. doi: 10.1007/BF00283689.
9
The aniridia-Wilms' tumour association: molecular and genetic analysis of chromosome deletions on the short arm of chromosome 11.无虹膜-威尔姆斯瘤综合征:11号染色体短臂染色体缺失的分子与遗传学分析
Hum Genet. 1989 May;82(2):123-6. doi: 10.1007/BF00284042.
10
A deletion map of the WAGR region on chromosome 11.11号染色体上WAGR区域的缺失图谱。
Am J Hum Genet. 1989 Apr;44(4):486-95.
Cancer Genet Cytogenet. 1983 Sep;10(1):51-7. doi: 10.1016/0165-4608(83)90105-x.
4
Wilms's tumour and aniridia: clinical and cytogenetic features.肾母细胞瘤与无虹膜:临床及细胞遗传学特征
Arch Dis Child. 1982 Sep;57(9):685-90. doi: 10.1136/adc.57.9.685.
5
Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes.伴有无虹膜/虹膜发育异常且染色体明显正常的肾母细胞瘤。
J Pediatr. 1982 Apr;100(4):574-7. doi: 10.1016/s0022-3476(82)80755-5.
6
Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature.11p/无虹膜复合体缺失。三例患者报告及文献中37例观察资料综述。
Clin Genet. 1984 Oct;26(4):356-62. doi: 10.1111/j.1399-0004.1984.tb01071.x.
7
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.无虹膜-肾母细胞瘤综合征中的染色体失衡:11p间质性缺失。
Pediatrics. 1978 Apr;61(4):604-10.
8
Aniridia-Wilms' tumour syndrome.无虹膜-肾母细胞瘤综合征
Ophthalmologica. 1977;174(1):35-9. doi: 10.1159/000308573.