一名患有肌张力减退、癫痫发作和发育迟缓的女婴体内存在一条不稳定的环状染色体。 - Suppr

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超能文献

An unstable ring chromosome in a female infant with hypotonia, seizures, and retarded development.

作者信息

Atkins L, Sceery R T, Keenan M E

出版信息

J Med Genet. 1966 Jun;3(2):134-8. doi: 10.1136/jmg.3.2.134.

DOI:10.1136/jmg.3.2.134

PMID:5963207

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1012916/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80d0/1012916/0f9271aacd87/jmedgene00327-0060-a.jpg

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An unstable ring chromosome in a female infant with hypotonia, seizures, and retarded development.一名患有肌张力减退、癫痫发作和发育迟缓的女婴体内存在一条不稳定的环状染色体。

J Med Genet. 1966 Jun;3(2):134-8. doi: 10.1136/jmg.3.2.134.

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Monosomy for a G autosome.一条G组常染色体单体性

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[Familial progressive rigidity of uncertain nosographic classification].

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Superior intelligence in recessively inherited torsion dystonia.

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[Chromosome mosaic with 2 aneuploid stem lines in the tissue culture of a patient with multiple abnormalities].[一名患有多种异常的患者组织培养中存在含2个非整倍体干细胞系的染色体嵌合体]

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Lafora's disease--a distinct genetically determined form of Unverricht's syndrome.

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[Mosaicism with an extra chromosome in a malformed girl born of an irradiated mother also a carrier of ring chromosomes].[一名畸形女孩的嵌合体，其有一条额外染色体，该女孩由一名受辐射的母亲所生，其母亲也是环状染色体携带者]

Ann Genet. 1971 Mar;14(1):63-7.

13-15 trisomy mosiacism in a normal-looking 14-year-old retarded girl.一名外貌正常的14岁智力发育迟缓女孩存在13 - 15三体嵌合体现象。

J Med Genet. 1966 Jun;3(2):142-4. doi: 10.1136/jmg.3.2.142.

引用本文的文献

Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review.一名患有独特嵌合型特纳综合征儿童生长激素缺乏与垂体微腺瘤并存：病例报告及文献综述

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Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome.两名患有嵌合型环状X染色体的特纳综合征患者的分子细胞遗传学特征

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Lesson of the week: Turner's syndrome mosaicism in patients with a normal blood lymphocyte karyotype.本周病例：血液淋巴细胞核型正常的患者中的特纳综合征嵌合体。

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Ring chromosome 18 in a patient with multiple anomalies.一名患有多种异常的患者的18号环状染色体。

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Multiple congenital anomalies associated with a ring-D chromosome.与环形D染色体相关的多种先天性异常。

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Monozygotic twins with ring chromosome 22.患有22号环状染色体的单卵双胞胎。

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Chromosomal mosaicism: a follow-up study of 39 unselected children found at birth.染色体镶嵌现象：对39名出生时未经筛选的儿童的随访研究。

Hum Genet. 1991 Nov;88(1):49-52. doi: 10.1007/BF00204928.

本文引用的文献

The Production of Homozygous Deficient Tissues with Mutant Characteristics by Means of the Aberrant Mitotic Behavior of Ring-Shaped Chromosomes.通过环状染色体的异常有丝分裂行为产生具有突变特征的纯合缺陷组织。

Genetics. 1938 Jul;23(4):315-76. doi: 10.1093/genetics/23.4.315.

A human skin culture technique used for cytological examinations.一种用于细胞学检查的人体皮肤培养技术。

Br J Exp Pathol. 1960 Feb;41(1):31-7.

[17-18 RING-CHROMOSOMES AND CONGENITAL MALFORMATIONS IN A YOUNG GIRL].[一名年轻女孩的17 - 18号环状染色体与先天性畸形]

Ann Genet. 1964;7:17-23.

RING-1 CHROMOSOME AND MICROCEPHALIC DWARFISM.1号环状染色体与小头畸形性侏儒症

Lancet. 1964 Dec 5;2(7371):1212-3. doi: 10.1016/s0140-6736(64)91045-1.

MULTIPLE CONGENITAL ANOMALIES ASSOCIATED WITH A PARTIALLY RING-SHAPED CHROMOSOME PROBABLY DERIVED FROM CHROMOSOME NO. 18 IN MAN.与一条可能源自人类第18号染色体的部分环形染色体相关的多种先天性畸形。

Nature. 1964 May 23;202:829-30. doi: 10.1038/202829a0.

[RING CHROMOSOMES IN GONADAL DYSGENESIS].[性腺发育不全中的环状染色体]

Geburtshilfe Frauenheilkd. 1964 Mar;24:173-84.

A SMALL AUTOSOMAL RING CHROMOSOME IN A FEMALE INFANT WITH CONGENITAL MALFORMATIONS.一名患有先天性畸形的女婴的一条小常染色体环状染色体

Ann Hum Genet. 1963 Nov;27:189-95. doi: 10.1111/j.1469-1809.1963.tb00212.x.

Ring chromosomes in human beings.人类中的环状染色体。

Nature. 1962 Aug 18;195:733-4. doi: 10.1038/195733a0.

Multiple congenital abnormalities associated with ring chromosome.与环状染色体相关的多种先天性异常。

Lancet. 1963 Aug 10;2(7302):304-5. doi: 10.1016/s0140-6736(63)90212-5.

Persistent chromosome aberrations in irradiated human subjects.受辐射人类受试者中的持续性染色体畸变。

Radiat Res. 1962 Jan;16:44-53.

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