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10号染色体长臂的末端缺失

Terminal deletion of the long arm of chromosome 10.

作者信息

Curtis H, Howell R T, Cope C

出版信息

J Med Genet. 1986 Oct;23(5):478-80. doi: 10.1136/jmg.23.5.478.

DOI:10.1136/jmg.23.5.478
PMID:3783629
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049791/
Abstract

A de novo chromosome abnormality interpreted as a terminal deletion of chromosome 10, del(10)(pter----q25.2:), was ascertained in a newborn female with multiple malformations. The clinical features observed at birth and on follow up at 10 months of age are described and compared with previously reported cases.

摘要

在一名患有多种畸形的新生女婴中,发现了一种新发的染色体异常,被解释为10号染色体末端缺失,即del(10)(pter----q25.2:)。本文描述了该女婴出生时及10个月随访时观察到的临床特征,并与先前报道的病例进行了比较。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c1a/1049791/b441ba0c6904/jmedgene00091-0095-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c1a/1049791/05850773d53d/jmedgene00091-0095-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c1a/1049791/b441ba0c6904/jmedgene00091-0095-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c1a/1049791/05850773d53d/jmedgene00091-0095-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c1a/1049791/b441ba0c6904/jmedgene00091-0095-b.jpg

相似文献

1
Terminal deletion of the long arm of chromosome 10.10号染色体长臂的末端缺失
J Med Genet. 1986 Oct;23(5):478-80. doi: 10.1136/jmg.23.5.478.
2
Terminal deletion of the long arm of chromosome 10: case report and review of the literature.10号染色体长臂末端缺失:病例报告及文献复习
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Terminal deletion of chromosome 10q at band 26.1: follow-up in an adolescent male with high-output renal failure from congenital obstructive uropathy.10号染色体长臂26.1带的末端缺失:一名先天性梗阻性肾病导致高输出性肾衰竭的青少年男性的随访情况
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[Del(1)(q22-q25) syndrome. Cytogenetics and phenotype].[1号染色体(q22-q25)缺失综合征。细胞遗传学与表型]
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De novo 10q(q21q22) interstitial deletion.新发10号染色体(q21q22)间质性缺失。
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引用本文的文献

1
A case of interstitial deletion of 10q25.2----q26.1.一例10q25.2----q26.1间质性缺失病例。
J Med Genet. 1989 Jan;26(1):58-60. doi: 10.1136/jmg.26.1.58.

本文引用的文献

1
Monosomy 10qter due to a balanced familial translocation: t(10;16)(q25.2;q24).
Clin Genet. 1981 Feb;19(2):130-3. doi: 10.1111/j.1399-0004.1981.tb00683.x.
2
Is there a monosomy 10qter syndrome?
Clin Genet. 1982 Jan;21(1):33-5. doi: 10.1111/j.1399-0004.1982.tb02076.x.
3
Terminal deletion of the long arm of chromosome 10 : q26 to qter. Case report and review of literature.10号染色体长臂末端缺失:从q26至qter。病例报告及文献复习。
Ann Genet. 1982;25(3):141-4.
4
Monosomy 10qter due to a balanced maternal translocation: t(10;8)(q23;p23).
由于母亲的平衡易位导致的10号染色体长臂末端单体:t(10;8)(q23;p23) 。
Clin Genet. 1983 Aug;24(2):147-50. doi: 10.1111/j.1399-0004.1983.tb02226.x.
5
Clinical features of monosomy 10qter.10q末端单体综合征的临床特征。
Ann Genet. 1983;26(2):106-8.
6
A further case of monosomy 10qter.
Clin Genet. 1983 Sep;24(3):216-9. doi: 10.1111/j.1399-0004.1983.tb02242.x.
7
Deletions of the long arm of chromosome 10.10号染色体长臂缺失
Am J Med Genet. 1985 Jan;20(1):181-96. doi: 10.1002/ajmg.1320200122.
8
Partial deletion 10q.10号染色体部分缺失
Hum Genet. 1978 Jun 27;42(3):339-43. doi: 10.1007/BF00291317.
9
Monosomy 10qter.10号染色体长臂末端单体性
Hum Genet. 1979 Apr 5;47(3):233-7. doi: 10.1007/BF00321014.