因Xp22.33缺失合并7p22.3重复所致的特纳综合征。 - Suppr

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

作者信息

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

机构信息

Department of Pediatrics, Pusan National University Hospital, Busan, Korea.

出版信息

Ann Pediatr Endocrinol Metab. 2023 Dec;28(Suppl 1):S14-S16. doi: 10.6065/apem.2244122.061. Epub 2023 Feb 1.

DOI:10.6065/apem.2244122.061

PMID:36731505

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10783925/

Abstract

摘要

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Eur J Endocrinol. 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430.

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J Hum Reprod Sci. 2013 Oct;6(4):277-9. doi: 10.4103/0974-1208.126313.

Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.单核苷酸多态性微阵列基因分型与中期细胞遗传学检查在 Turner 综合征诊断中的等效性。

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

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