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Heterogeneity of Karyotypes in Turner Syndrome.

作者信息

Mondal Sunetra, Bhattacharjee Rana, Chowdhury Subhankar, Mukhopadhyay Satinath

机构信息

Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research (IPGME&R) and SSKM Hospital, Ronald Ross Building, 4th Floor, Bhowanipore, Kolkata, West Bengal, 700020, India.

出版信息

Indian J Pediatr. 2021 Feb;88(2):175. doi: 10.1007/s12098-020-03410-z. Epub 2020 Jul 4.

DOI:10.1007/s12098-020-03410-z
PMID:32623591
Abstract
摘要

相似文献

1
Heterogeneity of Karyotypes in Turner Syndrome.特纳综合征核型的异质性
Indian J Pediatr. 2021 Feb;88(2):175. doi: 10.1007/s12098-020-03410-z. Epub 2020 Jul 4.
2
Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life.特纳综合征中的确诊偏倚:产前偶然诊断出的女孩带来的新见解。
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Diagnostic Pitfall: Mosaic Turner syndrome with a 46, XY lymphocyte karyotype.
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[Karyotypes and pelvic ultrasonography in children with Turner syndrome].[特纳综合征患儿的核型与盆腔超声检查]
Zhongguo Dang Dai Er Ke Za Zhi. 2008 Apr;10(2):158-60.
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[Statistical analysis of the number of karyotypes to be examined in order to diagnose a Turner patient (45, XO) and the number necessary to differentiate the Turner (45, XO) from a mosaic patient (45, OX/46, XX) (author's transl)].为诊断特纳氏综合征患者(45,XO)所需检查的核型数量以及将特纳氏综合征患者(45,XO)与嵌合型患者(45,OX/46,XX)区分开来所需的核型数量的统计分析(作者译)
Rinsho Byori. 1979 Dec;27(12):1087-90.
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Turner syndrome and its variants.特纳综合征及其变异型。
Indian J Pediatr. 2010 Feb;77(2):193-5. doi: 10.1007/s12098-009-0226-7. Epub 2009 Dec 11.
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Turner syndrome: the Leuven experience (1965-1989) in 478 patients. I. Patient's age at the time of diagnosis in relation to chromosomal findings.特纳综合征:鲁汶大学(1965 - 1989年)对478例患者的经验。一、诊断时患者年龄与染色体检查结果的关系。
Genet Couns. 1990;1(3-4):235-40.
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The prevalence of turner syndrome in girls presenting with coarctation of the aorta.Turner 综合征在合并主动脉缩窄的女性患者中的患病率。
J Pediatr. 2014 Feb;164(2):259-63. doi: 10.1016/j.jpeds.2013.09.031. Epub 2013 Oct 27.
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A case with 46,XX,del(11)(q23.2) karyotype and poor vision with literature review.
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Prevalence of the 45, X karyotype among Turner syndrome patients.
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1
Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.特纳综合征伴 X 三体细胞系(45,X/47,XXX)女性患者的患病率、诊断特征和医疗结局:InsighTS 注册研究结果。
Am J Med Genet A. 2024 Dec;194(12):e63819. doi: 10.1002/ajmg.a.63819. Epub 2024 Jul 17.
2
Mosaic Turner Variant Adult Female Presenting with XO/XY Karyotype.表现为XO/XY核型的嵌合型特纳变异型成年女性。
J Hum Reprod Sci. 2023 Jul-Sep;16(3):260-262. doi: 10.4103/jhrs.jhrs_71_23. Epub 2023 Sep 29.
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Prevalence and Predictors of Prediabetes in Adolescents and Young Adults with Turner Syndrome: A Cross-Sectional Study from Eastern India.
特纳综合征青少年和青年成人中糖尿病前期的患病率及预测因素:来自印度东部的一项横断面研究
Indian J Endocrinol Metab. 2023 Jul-Aug;27(4):335-345. doi: 10.4103/ijem.ijem_22_23. Epub 2023 Aug 28.
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Turner Syndrome and Neurofibromatosis 1: Rare Co-Existence with Important Clinical Implications.特纳综合征与神经纤维瘤病 1 型:罕见共存,具有重要的临床意义。
J ASEAN Fed Endocr Soc. 2023;38(1):114-119. doi: 10.15605/jafes.038.01.20. Epub 2023 Feb 17.