一名畸形男孩5号染色体长臂的间质缺失：46，XY，del(5)(q13q15) 。

Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15).

作者信息

Stoll C, Levy J, Roth M P

出版信息

J Med Genet. 1980 Dec;17(6):486-7. doi: 10.1136/jmg.17.6.486.

DOI:10.1136/jmg.17.6.486

PMID:7205434

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1885931/

Abstract

A boy with mental retardation and physical abnormalities has an interstitial deletion of one chromosome 5:46,XY,del(5)(q13q15).

摘要

一名患有智力发育迟缓及身体异常的男孩存在一条5号染色体的间质性缺失：46,XY,del(5)(q13q15)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6191/1885931/0605c312eca6/jmedgene00128-0078-a.jpg

相似文献

Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15).

J Med Genet. 1980 Dec;17(6):486-7. doi: 10.1136/jmg.17.6.486.

Interstitial deletion of the short arm of chromosome 4.

J Med Genet. 1984 Jun;21(3):223-5. doi: 10.1136/jmg.21.3.223.

Interstitial deletion of the band 4p15.3 defined by sequential replication banding.

Ann Genet. 1990;33(2):92-5.

Familial balanced insertion (5;10) and monosomy and trisomy (10) (q24.2----q25.3).

Clin Genet. 1984 Jan;25(1):52-8. doi: 10.1111/j.1399-0004.1984.tb00462.x.

Interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q13q22).

J Med Genet. 1982 Dec;19(6):479. doi: 10.1136/jmg.19.6.479.

Interstitial deletion of chromosome 1 (q23-q25). Report of a case.

Clin Genet. 1984 Jun;25(6):549-52. doi: 10.1111/j.1399-0004.1984.tb00500.x.

Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient.

Clin Genet. 1997 Aug;52(2):116-9. doi: 10.1111/j.1399-0004.1997.tb02528.x.

Interstitial deletion of the long arm of chromosome 4 in a patient with mental retardation and abnormal phenotype.

J Med Genet. 1982 Dec;19(6):477. doi: 10.1136/jmg.19.6.477.

Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.

J Med Genet. 1991 Jul;28(7):479-81. doi: 10.1136/jmg.28.7.479.

Terminal deletion of the long arm of chromosome 4 in a mother and two sons.

Clin Genet. 1996 Dec;50(6):538-40. doi: 10.1111/j.1399-0004.1996.tb02733.x.

引用本文的文献

The zebrafish mutant uncovers an evolutionarily conserved role for Tmem161b in the control of cardiac rhythm.

Proc Natl Acad Sci U S A. 2021 Mar 2;118(9). doi: 10.1073/pnas.2018220118.

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

J Med Genet. 2010 Jan;47(1):22-9. doi: 10.1136/jmg.2009.069732. Epub 2009 Jul 9.

Interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q13q22).

J Med Genet. 1982 Dec;19(6):479. doi: 10.1136/jmg.19.6.479.

Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q.

J Med Genet. 1988 Aug;25(8):570-2. doi: 10.1136/jmg.25.8.570.

本文引用的文献

[Dysmorphism syndrome, mental retardation and interstitial deletion of long arms of chromosome 5].

Ann Genet. 1978 Sep;21(3):161-3.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

一名畸形男孩5号染色体长臂的间质缺失：46，XY，del(5)(q13q15) 。

Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15).

作者信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

一名畸形男孩5号染色体长臂的间质缺失：46，XY，del(5)(q13q15) 。

Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15).

作者信息

出版信息

相似文献

引用本文的文献

本文引用的文献