雅各布森综合征中11号染色体长臂的部分缺失。 - Suppr

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Partial deletion of the long arm chromosome 11 in Jacobsen syndrome.

作者信息

Reddy K S, Thomas I M, Narayanan H S

出版信息

Indian J Pediatr. 1986 Jan-Feb;53(1):123-6. doi: 10.1007/BF02787084.

DOI:10.1007/BF02787084

PMID:3759192

Abstract

摘要

相似文献

Partial deletion of the long arm chromosome 11 in Jacobsen syndrome.雅各布森综合征中11号染色体长臂的部分缺失。

Indian J Pediatr. 1986 Jan-Feb;53(1):123-6. doi: 10.1007/BF02787084.

Partial deletion of the long arm of chromosome 11 the Jacobsen syndrome.11号染色体长臂部分缺失即雅各布森综合征。

Indian J Pediatr. 1984 May-Jun;51(410):359-62. doi: 10.1007/BF02754688.

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.雅各布森综合征：我们对表型和基因型认识的进展

Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):239-50. doi: 10.1002/ajmg.c.31448. Epub 2015 Aug 18.

Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3.脆性位点FRA11B与11q23.3处雅各布森综合征染色体缺失断点的物理连锁。

Hum Mol Genet. 1994 Dec;3(12):2123-30. doi: 10.1093/hmg/3.12.2123.

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.11q末端缺失障碍雅各布森综合征是一种综合征性原发性免疫缺陷病。

J Clin Immunol. 2015 Nov;35(8):761-8. doi: 10.1007/s10875-015-0211-z. Epub 2015 Nov 14.

De novo interstitial deletion in the long arm of chromosome 11: a case report.11号染色体长臂的新发间质性缺失：一例报告

Genet Mol Res. 2016 Jul 14;15(2):gmr8403. doi: 10.4238/gmr.15028403.

[Deletion 11q23 --> qter (Jacobsen Syndrome) associated with duodenal atresia and annular pancreas].

An Esp Pediatr. 2002 Sep;57(3):249-52.

Jacobsen syndrome: chromosome deletion at 11q23.雅各布森综合征：11号染色体长臂23区缺失

J Am Osteopath Assoc. 1998 Oct;98(10):551-4.

Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.雅各布森综合征：1例伴有严重眼部异常、生长激素缺乏及甲状腺功能减退且与11号染色体（q23q25）缺失相关的患者报告及52例病例回顾

J Med Genet. 1996 Sep;33(9):772-8. doi: 10.1136/jmg.33.9.772.

Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage.雅各布森综合征中CCG重复序列与染色体缺失断点的共定位：染色体断裂共同机制的证据

Hum Mol Genet. 2000 May 1;9(8):1201-8. doi: 10.1093/hmg/9.8.1201.

本文引用的文献

Partial monosomy of the long arm of chromosome 11 in a severely affected child.

Ann Genet. 1981;24(1):51-3.

An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.一个连续四代出现（11；21）易位且子代存在11号染色体异常的家系。一项临床、细胞遗传学及基因标记研究。

Hum Hered. 1973;23(6):568-85. doi: 10.1159/000152624.

Chromosome 11 long arm partial deletion: a new syndrome.11号染色体长臂部分缺失：一种新综合征。

Am J Ment Defic. 1976 Jan;80(4):473-5.

Anomalies associated with partial deletion of long arm of chromosome 11.与11号染色体长臂部分缺失相关的异常。

J Pediatr. 1975 May;86(5):750-2. doi: 10.1016/s0022-3476(75)80366-0.

[Partial 11q monosomy and trigonocephaly. A new syndrome].

Ann Genet. 1975 Dec;18(4):257-60.

[Interstitial deletion of the long arm of one 11 chromosome].[一条11号染色体长臂的间质缺失]

Ann Genet. 1975 Mar;18(1):61-3.

Deletion of 11q: report of two cases and a review.11号染色体长臂缺失：两例报告及文献复习

Birth Defects Orig Artic Ser. 1976;12(5):125-30.

The 11q-- syndrome: another case report.

Hum Genet. 1977 Apr 15;36(2):239-42. doi: 10.1007/BF00273264.

A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9.

Hum Genet. 1977 Apr 7;36(1):117-22. doi: 10.1007/BF00390443.

The 11q -- syndrome.

Hum Genet. 1977 Feb 11;35(2):241-6. doi: 10.1007/BF00393977.

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