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阿拉吉耶综合征与20号染色体短臂缺失

Alagille syndrome and deletion of 20p.

作者信息

Anad F, Burn J, Matthews D, Cross I, Davison B C, Mueller R, Sands M, Lillington D M, Eastham E

机构信息

Division of Human Genetics, University of Newcastle upon Tyne.

出版信息

J Med Genet. 1990 Dec;27(12):729-37. doi: 10.1136/jmg.27.12.729.

DOI:10.1136/jmg.27.12.729
PMID:2074558
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017275/
Abstract

We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. Included in our series is the first report of familial transmission of a 20p deletion.

摘要

我们在已发表的10例病例基础上又增加了5例20号染色体短臂缺失病例。其中4例具有阿拉吉列综合征的颅面、脊柱、眼部和心血管特征，这进一步支持了将该疾病定位于20号染色体短臂的观点。我们的系列病例中还包括首例20号染色体短臂缺失家族性遗传的报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/790a/1017275/aa67d436a5b5/jmedgene00050-0005-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/790a/1017275/7b51c1e3708b/jmedgene00050-0002-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/790a/1017275/ecbe43816d8d/jmedgene00050-0003-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/790a/1017275/d0f154780c7c/jmedgene00050-0004-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/790a/1017275/aa67d436a5b5/jmedgene00050-0005-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/790a/1017275/7b51c1e3708b/jmedgene00050-0002-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/790a/1017275/ecbe43816d8d/jmedgene00050-0003-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/790a/1017275/d0f154780c7c/jmedgene00050-0004-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/790a/1017275/aa67d436a5b5/jmedgene00050-0005-a.jpg

相似文献

1
Alagille syndrome and deletion of 20p.阿拉吉耶综合征与20号染色体短臂缺失
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2
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本文引用的文献

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Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members.
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Arteriohepatic dysplasia: phenotypic features and family studies.动脉肝发育不良：表型特征与家系研究。
Clin Genet. 1984 Apr;25(4):323-31. doi: 10.1111/j.1399-0004.1984.tb01998.x.
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Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease.动脉肝发育不良：伴有新生儿肝病的家族性肺动脉狭窄。
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Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.三名 46,XY 性发育障碍患者的隐匿性基因组重排。
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SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.20号染色体短臂缺失的单核苷酸多态性阵列图谱：基因型、表型及拷贝数变异
Hum Mutat. 2009 Mar;30(3):371-8. doi: 10.1002/humu.20863.
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20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.20p12.3微缺失易导致伴有可变神经认知缺陷的预激综合征。
J Med Genet. 2009 Mar;46(3):168-75. doi: 10.1136/jmg.2008.061002. Epub 2008 Sep 23.
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Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.直接传递的不平衡染色体异常和常染色质变异
J Med Genet. 2005 Aug;42(8):609-29. doi: 10.1136/jmg.2004.026955.
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Alagille syndrome.阿拉吉列综合征
Indian J Pediatr. 2002 Sep;69(9):815-8. doi: 10.1007/BF02723697.
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Monosomy 20p due to a de novo del(20)(p12.2). Clinical and radiological delineation of the syndrome.因新发del(20)(p12.2)导致的20号染色体短臂单体综合征。该综合征的临床及影像学特征描述
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Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.综合征性小叶间胆管稀少（阿拉吉耶综合征或动脉性肝发育不良）：80例病例回顾
J Pediatr. 1987 Feb;110(2):195-200. doi: 10.1016/s0022-3476(87)80153-1.
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del(20p) with manifestations of arteriohepatic dysplasia.
Am J Med Genet. 1986 Aug;24(4):673-8. doi: 10.1002/ajmg.1320240411.
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Deletion of the short arm of chromosome 20.
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Deletion of the short arm of chromosome 20.
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Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism.
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Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome).与综合征性肝内胆管发育不全（阿拉吉列综合征）相关的20号染色体短臂间质缺失的分子和细胞遗传学分析。
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