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15号染色体异常与普拉德-威利综合征:细胞遗传学分析

Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

作者信息

Mattei M G, Souiah N, Mattei J F

出版信息

Hum Genet. 1984;66(4):313-34. doi: 10.1007/BF00287636.

DOI:10.1007/BF00287636
PMID:6373566
Abstract

The behaviour of chromosome 15 is very different from that of the other acrocentric chromosomes. The cytogenetic characteristics of rearrangements associated with Prader-Willi syndrome (PWS) are analyzed as similar rearrangements irrespective of the associated phenotype (reciprocal translocations of chromosome 15, small bisatellited additional chromosomes, Robertsonian translocations, interstitial deletions, pericentric inversions). This study suggests that: (1) The proximal ( 15q ) region and PWS seem to be indissociable ; (2) chromosome 15 has an indisputable cytogenetic originality which could be related to its histochemical properties. Chromosome 15 constitutive heterochromatin usually contains much 5-methylcytosine-rich DNA and a large amount of each of the four satellite DNAs. Furthermore the existence in the proximal ( 15q ) region of one or several palindromic sequences could be postulated to explain the great lability of this region of chromosome 15.

摘要

15号染色体的行为与其他近端着丝粒染色体的行为有很大不同。与普拉德-威利综合征(PWS)相关的重排的细胞遗传学特征,无论相关表型如何(15号染色体的相互易位、小的双随体额外染色体、罗伯逊易位、中间缺失、臂间倒位),都被分析为相似的重排。这项研究表明:(1)近端(15q)区域与PWS似乎不可分割;(2)15号染色体具有无可争议的细胞遗传学独特性,这可能与其组织化学特性有关。15号染色体的组成型异染色质通常含有大量富含5-甲基胞嘧啶的DNA以及四种卫星DNA中的每一种的大量拷贝。此外,可以推测在近端(15q)区域存在一个或几个回文序列,以解释15号染色体该区域的高度不稳定性。

相似文献

1
Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.15号染色体异常与普拉德-威利综合征:细胞遗传学分析
Hum Genet. 1984;66(4):313-34. doi: 10.1007/BF00287636.
2
Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion.一名患有普拉德-威利综合征男孩的15号染色体长臂重复;进一步的细胞遗传学混淆。
Clin Genet. 1984 Oct;26(4):379-82. doi: 10.1111/j.1399-0004.1984.tb01075.x.
3
The cytogenetic controversy in the Prader-Labhart-Willi syndrome.普拉德-拉巴尔特-威利综合征中的细胞遗传学争议。
Am J Med Genet. 1982 Dec;13(4):431-9. doi: 10.1002/ajmg.1320130412.
4
Unbalanced reciprocal translocations in cases of Prader-Willi syndrome.普拉德-威利综合征病例中的不平衡相互易位
Hum Genet. 1984;67(2):156-61. doi: 10.1007/BF00272991.
5
Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes.近端15号染色体长臂缺失与非典型普拉德-威利综合征表型
Am J Med Genet. 1985 Feb;20(2):255-63. doi: 10.1002/ajmg.1320200208.
6
Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.15号染色体异常与普拉德-威利综合征:40例随访报告
Am J Hum Genet. 1982 Mar;34(2):278-85.
7
Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome.
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8
Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.15q区域的一个区域的缺失、易位和重复可能与普拉德-威利(或类似)综合征相关。对七例经过不同确诊方式的病例进行分析。
Hum Genet. 1983;64(4):388-94. doi: 10.1007/BF00292373.
9
Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes.荧光原位杂交(FISH)研究表明,在普拉德-威利综合征和安吉尔曼综合征中,涉及15号染色体的三例不平衡易位中,相互易位染色体上的端粒缺失。
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10
Deletions of proximal 15q without Prader-Willi syndrome.无普拉德-威利综合征的近端15q缺失
Am J Med Genet. 1987 Dec;28(4):813-20. doi: 10.1002/ajmg.1320280405.

引用本文的文献

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Spatial inter-centromeric interactions facilitated the emergence of evolutionary new centromeres.空间着丝粒相互作用促进了进化中新着丝粒的出现。
Elife. 2020 May 29;9:e58556. doi: 10.7554/eLife.58556.
2
AMINO ACID LEVELS IN PRADER-WILLI SYNDROME AND OBESE INDIVIDUALS.普拉德-威利综合征和肥胖个体中的氨基酸水平
Dysmorphol Clin Genet. 1990;4(1):18-22.
3
INTRAFAMILIAL AND MIDPARENTAL-CHILD CORRELATIONS AND HERITABILITY ESTIMATES OF ANTHROPOMETRIC MEASUREMENTS IN PRADER-WILLI SYNDROME FAMILIES.普拉德-威利综合征家庭中人体测量学指标的家族内及亲代与子代相关性和遗传度估计

本文引用的文献

1
An aberrant small acrocentric chromosome.一条异常的小近端着丝粒染色体。
Ann Hum Genet. 1962 Jul;26:77-83. doi: 10.1111/j.1469-1809.1962.tb01312.x.
2
Preferential fluorescent staining of heterochromatic regions in human chromosomes 9, 15, and the Y by D 287/170.D 287/170对人类9号、15号染色体以及Y染色体上异染色质区域的优先荧光染色。
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[Maternal translocation t (1; 8; 15) and trisomy 8 qter in her daughter. Genetic counseling].[母亲的1号与8号、15号染色体易位及其女儿的8号染色体长臂末端三体。遗传咨询]
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Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.15号染色体最大倒位重复中常见断点的分子细胞遗传学证据。
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Prenatal diagnosis and the Prader-Willi syndrome.产前诊断与普拉德-威利综合征
Hum Genet. 1986 Mar;72(3):278. doi: 10.1007/BF00291897.
7
Morphology alone does not make an isochromosome.仅形态学特征不足以判定等臂染色体。
Hum Genet. 1986 Mar;72(3):253-5. doi: 10.1007/BF00291889.
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Isochromosome 15 with behaviour disorder.
Hum Genet. 1986 Feb;72(2):188. doi: 10.1007/BF00283946.
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An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome.一项针对38名普拉德-威利综合征患者的人体测量学研究。
Am J Med Genet. 1987 Feb;26(2):445-55. doi: 10.1002/ajmg.1320260224.
10
Microdissection of and microcloning from the short arm of human chromosome 2.人类2号染色体短臂的显微切割及微克隆
Mol Cell Biol. 1986 Nov;6(11):3826-30. doi: 10.1128/mcb.6.11.3826-3830.1986.
J Genet Hum. 1980 Sep;28(3):361-6.
4
A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members.一名患有普拉德-威利综合征且有罗伯逊易位45,XX,t(14;15)(p11;q11)的女孩,该易位存在于三名正常家庭成员中。
Hum Genet. 1980;55(2):271-3. doi: 10.1007/BF00291777.
5
Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.相互易位:一种通过粗线期图绘制预测不平衡分离模式的方法。
Hum Genet. 1980;55(2):209-22. doi: 10.1007/BF00291769.
6
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.15号染色体缺失是普拉德-威利综合征的病因。
N Engl J Med. 1981 Feb 5;304(6):325-9. doi: 10.1056/NEJM198102053040604.
7
Prader-Willi syndrome and a bisatellited derivative of chromosome 15.普拉德-威利综合征与15号染色体的双着丝粒衍生物
Clin Genet. 1980 Jul;18(1):42-7. doi: 10.1111/j.1399-0004.1980.tb01363.x.
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Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation.因母亲平衡易位导致的8号染色体短臂部分三体性。
J Med Genet. 1980 Jun;17(3):232-5. doi: 10.1136/jmg.17.3.232.
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A new case of rearrangement of chromosome 15 associated with Prader Willi syndrome.一例与普拉德-威利综合征相关的15号染色体重排新病例。
Clin Genet. 1980 Jun;17(6):423-7. doi: 10.1111/j.1399-0004.1980.tb00174.x.
10
Congenital heart disease with del(15q) mosaicism.
Clin Genet. 1980 Jan;17(1):26-8. doi: 10.1111/j.1399-0004.1980.tb00108.x.