因 Xp22.33 缺失合并 7p22.3 重复而导致的特纳综合征。

IF 2.8 Q3 ENDOCRINOLOGY & METABOLISM

Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2023-02-01 DOI:10.6065/apem.2244122.061

Ha Young Jo, Hyun Ji Jang, Young Mi Kim, Soo-Han Choi, Kyung Hee Park, Hye Won Yoo, Su Jeong Park, Yoon Hee Jo, Min Jung Kwak

引用次数: 0

摘要

特纳综合征(TS)是一种相对常见的染色体疾病，以身材矮小、卵巢功能衰竭和多种先天性异常为特征。Xp缺失很少被报道为TS的病因，在大多数情况下，缺乏特征性特征。因此，我们提出一个33个月大的女孩谁是入院由于发育迟缓:她有身材矮小和勒氏发育不全。我们使用染色体微阵列证实了Xp22.33-p11.3缺失和7p22.3-q11.21重复。其他TS并发症包括桥本甲状腺炎。目前，该患者因身材矮小正在接受重组人类生长激素治疗。据我们所知，这是第一个由Xp22.33缺失和7p22.3重复引起的TS的报告。我们相信这些数据将为分析非典型TS或Xp缺失表型提供良好的参考。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication.

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来源期刊

Annals of Pediatric Endocrinology & Metabolism Multiple-

CiteScore

4.00

自引率

18.20%

发文量

审稿时长

24 weeks

期刊介绍： The Annals of Pediatric Endocrinology & Metabolism Journal is the official publication of the Korean Society of Pediatric Endocrinology. Its formal abbreviated title is “Ann Pediatr Endocrinol Metab”. It is a peer-reviewed open access journal of medicine published in English. The journal was launched in 1996 under the title of ‘Journal of Korean Society of Pediatric Endocrinology’ until 2011 (pISSN 1226-2242). Since 2012, the title is now changed to ‘Annals of Pediatric Endocrinology & Metabolism’. The Journal is published four times per year on the last day of March, June, September, and December. It is widely distributed for free to members of the Korean Society of Pediatric Endocrinology, medical schools, libraries, and academic institutions. The journal is indexed/tracked/covered by web sites of PubMed Central, PubMed, Emerging Sources Citation Index (ESCI), Scopus, EBSCO, EMBASE, KoreaMed, KoMCI, KCI, Science Central, DOI/CrossRef, Directory of Open Access Journals(DOAJ), and Google Scholar. The aims of Annals of Pediatric Endocrinology & Metabolism are to contribute to the advancements in the fields of pediatric endocrinology & metabolism through the scientific reviews and interchange of all of pediatric endocrinology and metabolism. It aims to reflect the latest clinical, translational, and basic research trends from worldwide valuable achievements. In addition, genome research, epidemiology, public education and clinical practice guidelines in each country are welcomed for publication. The Journal particularly focuses on research conducted with Asian-Pacific children whose genetic and environmental backgrounds are different from those of the Western. Area of specific interest include the following : Growth, puberty, glucose metabolism including diabetes mellitus, obesity, nutrition, disorders of sexual development, pituitary, thyroid, parathyroid, adrenal cortex, bone or other endocrine and metabolic disorders from infancy through adolescence.