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A girl with an end-to-end fusion of two X'S.

作者信息

Stoll C, Lausecker C, Pennerath A

出版信息

Eur J Pediatr. 1979 May 18;131(2):141-5. doi: 10.1007/BF00447477.

DOI:10.1007/BF00447477
PMID:456386
Abstract

An abnormal large chromosome was seen in the karyotype of a 3-year-old girl with features of Turner's syndrome: i.e., short stature, cubitus valgus, coarctation of aorta. With the banding technics this abnormal chromosome appears to be the result of a fusion of two X chromosomes, short arm-to-short arm. This chromosome has two regions with C-heterochromatin and is late replicating.

摘要

相似文献

1
A girl with an end-to-end fusion of two X'S.
Eur J Pediatr. 1979 May 18;131(2):141-5. doi: 10.1007/BF00447477.
2
[A report of 2 cases of Turner's syndrome with a ring X chromosome].[两例伴有X染色体环状结构的特纳综合征报告]
Minerva Pediatr. 1991 Sep;43(9):605-9.
3
An abnormal dicentric X chromosome in a patient with short stature and gonadal dysgenesis.一名身材矮小和性腺发育不全患者存在一条异常的双着丝粒X染色体。
Ann Genet. 1979;22(3):143-7.
4
[xXi karyotype and Turner's syndrome].[X染色体核型与特纳综合征]
Bord Med. 1972 Mar;5(6):679-84.
5
Structural X-chromosome abnormality in a female with gonadal dysgenesis.一名患有性腺发育不全的女性的X染色体结构异常。
Humangenetik. 1975;26(2):133-8. doi: 10.1007/BF00278440.
6
X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies.一名身材矮小且具有特纳综合征某些特征的女孩中的X;Y易位：细胞遗传学和分子研究
J Med Genet. 1994 Aug;31(8):649-51. doi: 10.1136/jmg.31.8.649.
7
Association of intrauterine growth retardation with monosomy of the terminal segment of the short arm of the X chromosome in patients with Turner's syndrome.特纳综合征患者中宫内生长迟缓与X染色体短臂末端片段单体性的关联。
Gynecol Obstet Invest. 2000;50(4):237-41. doi: 10.1159/000010323.
8
[Turner's syndrome with generalized arterial hypertension, pseudocoarctation of the aorta (kinking) and a ring-form X chromosome].[特纳综合征伴全身性动脉高血压、主动脉假性缩窄（扭结）及环状X染色体]
Pediatrie. 1978 Jun;33(4):383-92.
9
An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome.一名无特纳综合征躯体特征的女性，其X染色体呈等臂双着丝粒且短臂融合。
J Med Genet. 1987 Jul;24(7):428-31. doi: 10.1136/jmg.24.7.428.
10
Letter: X long-arm deletion with features of Turner's syndrome.
Lancet. 1974 Feb 9;1(7850):210. doi: 10.1016/s0140-6736(74)92509-4.

引用本文的文献

1
Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3).特纳综合征嵌合体：一例伴有新发大的双着丝粒标记染色体的罕见病例：45,X/46,X,ter rea(X;X)(p22.3;p22.3)嵌合体
J Appl Genet. 2008;49(3):301-3. doi: 10.1007/BF03195627.
2
Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.特纳综合征与女性性染色体畸变：推导临床特征发展中涉及的主要因素。
Hum Genet. 1995 Jun;95(6):607-29. doi: 10.1007/BF00209476.
3
The Turner phenotype and the different types of human x isochromosome.

本文引用的文献

1
A VERY LARGE METACENTRIC CHROMOSOME IN A WOMAN WITH SYMPTOMS OF TURNER'S SYNDROME.一名患有特纳综合征症状的女性体内的一条非常大的中着丝粒染色体。
Cytogenetics. 1964;3:427-40. doi: 10.1159/000129831.
2
X-X translocation in a patient with Turner's syndrome.一名特纳综合征患者的X-X易位
Humangenetik. 1973 Dec 20;20(4):377-80. doi: 10.1007/BF00273343.
3
Familial x/x translocation: t(x;x)(p22;q13).家族性X/X易位：t（X；X）（p22；q13）
特纳综合征表型与人类不同类型的X等臂染色体。
Hum Genet. 1981;57(2):159-64. doi: 10.1007/BF00282013.
Cytogenet Cell Genet. 1974;13(5):454-64. doi: 10.1159/000130299.
4
Fusion of the short arms of one X chromosome in a patient with gonadal dysgenesis.一名性腺发育不全患者中一条X染色体短臂的融合。
Humangenetik. 1974;24(2):159-60. doi: 10.1007/BF00283775.
5
Dicentric human X chromosomes.双着丝粒人类X染色体。
Hereditas. 1974;76(2):259-68. doi: 10.1111/j.1601-5223.1974.tb01344.x.
6
Apparently isodicentric but functionally monocentric X chromosome in man.人类中明显等臂双着丝粒但功能上为单着丝粒的X染色体。
Am J Hum Genet. 1974 Jan;26(1):83-92.
7
An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry.通过新的显带技术和显微密度测定法的联合结果，鉴定出一条异常大的人类染色体，它是由两条X染色体端对端融合而成。
Clin Genet. 1972;3(5):388-95. doi: 10.1111/j.1399-0004.1972.tb01472.x.
8
Localization of heterochromatin in human chromosomes.人类染色体中异染色质的定位
Cytogenetics. 1971;10(2):81-6. doi: 10.1159/000130130.
9
[A new technic of analysis of the human karyotype].[一种人类核型分析的新技术]
C R Acad Hebd Seances Acad Sci D. 1971 May 17;272(20):2638-40.
10
A second example of telomeric fusion 2 X chromosomes.端粒融合的第二个例子是两条X染色体。
Ann Genet. 1975 Dec;18(4):243-5.