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[Satellited Y chromosome (Yqs) and nucleolar organizer occurring de novo].

作者信息

Turleau C, Chavin-Colin F, Seger J, Sorin M, Salet D, de Grouchy J

出版信息

Ann Genet. 1978 Dec;21(4):239-42.

PMID:314264
Abstract

A satellited Y chromosome (Yqs) occurred de novo in a boy born to first cousins. The child had severe mental retardation, facial dysmorphism, congenital heart disease, and amaurosis, and died at 6 months and of age. The chromosome rearrangement was confirmed by R-, G-, C-, Q-, and Ag-NOR banding. Its significance and the difficulty of genetic counseling are discussed.

摘要

相似文献

1
[Satellited Y chromosome (Yqs) and nucleolar organizer occurring de novo].
Ann Genet. 1978 Dec;21(4):239-42.
2
[Unusual chromosomal rearrangement. An autosomal telomeric translocation on a multicentury satellited Y (Yqs) chromosome].[异常染色体重排。一条多世纪以来带有随体的Y(Yqs)染色体上的常染色体端粒易位]
Ann Genet. 1983;26(2):86-90.
3
A case of nondisjunction of chromosome 21 (47,X,Yqs,+21) in an Indian family with Yqs.一个印度家庭中出现21号染色体不分离(47,X,Yqs,+21)且带有Yqs的病例。
Ann Genet. 1984;27(3):194-6.
4
Satellited Y chromosomes: structure, origin, and clinical significance.随体Y染色体:结构、起源及临床意义
Hum Genet. 1984;67(1):72-85. doi: 10.1007/BF00270562.
5
Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis.
Prenat Diagn. 2001 Jun;21(6):484-7. doi: 10.1002/pd.79.
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Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause.200例病因不明的智力发育迟缓及多发先天性异常患儿的细胞遗传学研究结果
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7
[A satellited Y chromosome].[一个随体Y染色体]
Ann Genet. 1978 Dec;21(4):237-8.
8
Silver stain reveals nucleolus organizer regions on a satellited Yq chromosome.银染显示在一条带有随体的Yq染色体上的核仁组织区。
Hum Genet. 1978 Jun 27;42(3):245-50. doi: 10.1007/BF00291303.
9
[Remarks on a satellited Y chromosome (author's transl)].关于一条随体Y染色体的评论(作者译)
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De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay.与胼胝体发育不全、脑室后角扩大、隐匿阴茎、先天性心脏缺陷和发育迟缓相关的新生卫星21q。
Genet Couns. 2004;15(4):437-42.

引用本文的文献

1
Loss of the Y chromosomal PAR2-region in four familial cases of satellited Y chromosomes (Yqs).4例伴有随体Y染色体(Yqs)的家族性病例中Y染色体PAR2区域的缺失。
Chromosome Res. 2001;9(3):215-22. doi: 10.1023/a:1012219820317.
2
Characterization of a new aberration of the human Y chromosome by banding methods and DNA restriction endonuclease analysis.通过显带方法和DNA限制性内切酶分析对人类Y染色体一种新畸变的特征描述。
Hum Genet. 1981;59(1):26-35. doi: 10.1007/BF00278850.
3
Characterisation of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH.
通过荧光原位杂交技术对卫星状非荧光Y染色体(Y[nfqs])进行特征分析。
J Med Genet. 1997 Oct;34(10):817-8. doi: 10.1136/jmg.34.10.817.
4
Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes.三例带有随体Y染色体的家族病例的分子细胞遗传学特征
Hum Genet. 1993 May;91(4):389-91. doi: 10.1007/BF00217364.
5
A family with a satellited Yq chromosome.
Hum Genet. 1981;57(1):99-100. doi: 10.1007/BF00271178.
6
Yqs in an American family of Scottish descent.
Hum Genet. 1982;60(4):387-8. doi: 10.1007/BF00569227.
7
Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.人类男性决定因素的定位:Y染色体结构异常的全面综述。
J Med Genet. 1981 Jun;18(3):161-95. doi: 10.1136/jmg.18.3.161.
8
Satellited Y chromosomes: structure, origin, and clinical significance.随体Y染色体:结构、起源及临床意义
Hum Genet. 1984;67(1):72-85. doi: 10.1007/BF00270562.
9
Yqs resulting from a reciprocal Y;15 translocation in the father of a 46,X,i(Xq) girl.
Hum Genet. 1986 Oct;74(2):203. doi: 10.1007/BF00282096.
10
Demonstration of Y/autosomal translocations using distamycin A.
Hum Genet. 1979;53(1):107-9. doi: 10.1007/BF00289459.