4p-综合征相关关键单体片段：对5例遗传病例的高分辨率显带研究 - Suppr

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超能文献

The critical monosomic segment involved in 4p- syndrome: a high-resolution banding study on five inherited cases.

作者信息

Narahara K, Himoto Y, Yokoyama Y, Kasai R, Hata A, Kikkawa K, Takahashi Y, Wakita Y, Kimura S, Kimoto H

出版信息

Jinrui Idengaku Zasshi. 1984 Dec;29(4):403-13. doi: 10.1007/BF01876498.

DOI:10.1007/BF01876498

PMID:6535856

Abstract

摘要

相似文献

The critical monosomic segment involved in 4p- syndrome: a high-resolution banding study on five inherited cases.4p-综合征相关关键单体片段：对5例遗传病例的高分辨率显带研究

Jinrui Idengaku Zasshi. 1984 Dec;29(4):403-13. doi: 10.1007/BF01876498.

[De novo monosomy 4q32.1 leads to 4qter in a newborn with multiple malformations (author's transl)].新生儿新发4号染色体长臂32.1区单体性导致4号染色体末端出现多种畸形（作者译）

Ann Genet. 1979;22(4):214-6.

On the deletion 4p16 Wolf-Hirschhorn syndrome.关于4p16缺失的沃尔夫-赫希霍恩综合征。

Ann Genet. 1979;22(4):228-31.

Pathologic findings in the Wolf-Hirschhorn (4p-) syndrome.Wolf-Hirschhorn（4p-）综合征的病理发现。

Am J Med Genet. 1981;9(3):183-7. doi: 10.1002/ajmg.1320090303.

Clinicopathological study in a female infant with 46,XX,i(18q) showing mixed features of both trisomy 18 and monosomy 18p.对一名患有46,XX,i(18q)且表现出18三体和18p单体混合特征的女婴进行的临床病理研究。

Jinrui Idengaku Zasshi. 1985 Sep;30(3):219-26. doi: 10.1007/BF01876472.

[Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)].[同一患者中，4号染色体短臂缺失（4p-）与肝脏对羟基苯丙酮酸氧化酶活性完全缺乏（酪氨酸血症）的关联]

J Genet Hum. 1981 Dec;29(4):455-61.

[Partial deletion of the short arm of chromosome 4. Apropos of 3 cases].[4号染色体短臂部分缺失。附3例报告]

Ann Genet. 1977 Jun;20(2):93-100.

Clinical and cytogenetic studies in a large (4;8) translocation family with pre- and postnatal Wolf syndrome.一个患有产前和产后沃尔夫综合征的大型（4；8）易位家族的临床和细胞遗传学研究。

Ann Genet. 1984;27(4):224-9.

[A difficult cytogenetic diagnosis of 4p monosomy].[4p单体的疑难细胞遗传学诊断]

J Genet Hum. 1988 Jan;36(1-2):75-82.

[13q syndrome--partial monosomy of the long arm of chromosome 13].[13q综合征——13号染色体长臂部分单体性]

Klin Padiatr. 1983 Sep-Oct;195(5):361-4. doi: 10.1055/s-2008-1034399.

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9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.9q34.3微重复通过EHMT1过表达导致神经发育障碍。

Neurogenetics. 2019 Aug;20(3):145-154. doi: 10.1007/s10048-019-00581-6. Epub 2019 Jun 17.

Recombinant chromosome 4 in two fetuses - case report and literature review.两例胎儿的重组4号染色体——病例报告及文献综述

Mol Cytogenet. 2018 Aug 22;11:48. doi: 10.1186/s13039-018-0393-1. eCollection 2018.

Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features.两名姐妹因母亲的臂间倒位产生重组4号染色体，表现出一致的畸形特征。

Eur J Pediatr. 2007 Jan;166(1):67-71. doi: 10.1007/s00431-006-0214-0. Epub 2006 Sep 30.

Trisomy 4p and ocular defects.4号染色体短臂三体与眼部缺陷。

Br J Ophthalmol. 1994 May;78(5):415-7. doi: 10.1136/bjo.78.5.415.

A contribution to the differential diagnosis of the "group of schizophrenias": structural abnormality of chromosome 4.对“精神分裂症群组”鉴别诊断的一项贡献：4号染色体结构异常

J Psychiatry Neurosci. 1994 Jul;19(4):270-7.

Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the "critical segment" towards the telomere.与Wolf-Hirschhorn综合征相关的4p缺失的分子分析，将“关键区段”向端粒方向移动。

Hum Genet. 1991 Mar;86(5):481-3. doi: 10.1007/BF00194637.

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