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Study on the relationship between cytogenetics and phenotypic effect in Turner's syndrome.

作者信息

Hu X, Zhu B, Lin H, Shu D, Tao D, Wang M

机构信息

Department of Paediatrics, Tongji Hospital, Tongji Medical University, Wuhan.

出版信息

J Tongji Med Univ. 1996;16(4):245-8. doi: 10.1007/BF02888117.

DOI:10.1007/BF02888117
PMID:9389092
Abstract

The cytogenetics and clinical stigmata in 5 cases of Turner's syndrome were studied. Three of them were non-mosaic 1(Xq) and two with partial monosome of a X chromosome short are (Xp21), whose DNA replication patterns of inactive X chromosome were analyzed by RBG technique. Results showed that differences between the replication patterns in cases of X chromosome deletion (Xp21) and normal females existed; that the behavior of abnormal X expressed nonrandom inactivation. It was suggested that the phenotype may be closely related with both X chromosome replication pattern and its inactivation behavior, which might be useful in genetic counselling.

摘要

相似文献

1
Study on the relationship between cytogenetics and phenotypic effect in Turner's syndrome.
J Tongji Med Univ. 1996;16(4):245-8. doi: 10.1007/BF02888117.
2
Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency.四名患有Xq重复和Xp缺失的女孩的部分特纳综合征。
Hum Genet. 1982;61(1):12-7. doi: 10.1007/BF00291323.
3
Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.具有特纳综合征体征患者的细胞遗传学和分子学研究结果。
J Med Genet. 1995 Dec;32(12):962-7. doi: 10.1136/jmg.32.12.962.
4
Molecular biology of Turner's syndrome.特纳综合征的分子生物学
Arch Dis Child. 1995 Apr;72(4):285-6. doi: 10.1136/adc.72.4.285.
5
Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered X chromosome.身材高大、性腺发育不全以及由结构改变的X染色体引起的特纳综合征体征。
J Pediatr. 2001 Feb;138(2):285-7. doi: 10.1067/mpd.2001.110277.
6
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.来自特纳综合征的证据表明，一个印记X连锁基因座影响认知功能。
Nature. 1997 Jun 12;387(6634):705-8. doi: 10.1038/42706.
7
Nested polymerase chain reaction study of 53 cases with Turner's syndrome: is cytogenetically undetected Y mosaicism common?53例特纳综合征患者的巢式聚合酶链反应研究：细胞遗传学未检测到的Y染色体嵌合现象常见吗？
J Clin Endocrinol Metab. 1995 Dec;80(12):3532-6. doi: 10.1210/jcem.80.12.8530595.
8
Assessment of X bends in patients with atypical X chromosome phenotypes.
Ann Genet. 1991;34(2):120-4.
9
Molecular diagnosis of Turner's syndrome.特纳综合征的分子诊断
J Med Genet. 1992 Aug;29(8):547-51. doi: 10.1136/jmg.29.8.547.
10
Assessment of Turner's syndrome by molecular analysis of the X chromosome in growth-retarded girls.通过对生长发育迟缓女孩的X染色体进行分子分析来评估特纳综合征。
J Clin Endocrinol Metab. 1998 May;83(5):1472-6. doi: 10.1210/jcem.83.5.4805.

本文引用的文献

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性染色体结构异常中的DNA复制与失活模式。I. X-A易位、环状染色体、片段、等臂染色体及假等臂双着丝粒染色体。
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Position of the human X inactivation center on Xq.人类X染色体失活中心在Xq上的位置。
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