Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates

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Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates

机译：基因拷贝数量化的减震器,VAMP7和SRY基因检测的性染色体非整倍性的新生儿

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Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns.

机译：目的:探讨检测性的可行性染色体非整倍性(sca)的基因身材矮小的拷贝数量化同源框(减震器)vesicle-associated膜蛋白7 (VAMP7)和SRY在新生儿。

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《Genetic testing and molecular biomarkers》 |2020年第6期|352-358|共7页
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正文语种英语
中图分类遗传学;
关键词
Turner Syndrome; Sex Chromosomes; AneuploidyNewborn InfantEarly DiagnosisVAMP7 geneGene Dosage;

机译：特纳综合症;性染色体;非整倍体新生儿早期诊断VAMP7基因剂量;

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1. Rapid detection of chromosome 18 aneuploidies in amniocytes by using primed in situ labeling （PRINS） technique [J] . 杨建滨, 郑树浙江大学学报：自然科学英文版 . 2002,第5期
2. Rapid detection of chromosome 18 aneuploidies in amniocytes by using primed in situ labeling (PRINS) technique [J] . 杨建滨, 郑树浙江大学学报（英文版）（A辑：应用物理和工程） . 2002,第5期
3. Investigation of SRY Gene in Sex Reversed Syndrome Patients [J] . 陈金东, 单祥年, 蒋清, 生殖与避孕：英文版 . 1995,第002期
4. Detection of sex chromosomal aneuploidies X‐X, Y‐Y, and X‐Y in human sperm using two‐chromosome fluorescence in situ hybridization [J] . Andrew J. Wyrobek, Wendie A. Robbins, Yasmin MehraeinDan PinkelH.‐U. Weier american journal of medical genetics . 1994,第1期

机译：Detection of sex chromosomal aneuploidies X‐X, Y‐Y, and X‐Y in human sperm using two‐chromosome fluorescence in situ hybridization
5. Gene copy-number changes and chromosomal instability induced by aneuploidy confer resistance to chemotherapy [J] . Ippolito Marica Rosaria, Martis Valentino, Martin SaraTijhuis Andrea E.Hong ChristyWardenaar ReneDumont MarieZerbib JohannaSpierings Diana C. J.Fachinetti DanieleBen-David UriFoijer FlorisSantaguida Stefano Developmental cell . 2021,第17期

机译：Gene copy-number changes and chromosomal instability induced by aneuploidy confer resistance to chemotherapy
6. A systematic review and meta‐analysis of cell‐free DNA testing for detection of fetal sex chromosome aneuploidy [J] . Matthew A. Shear, Kate Swanson, Ria GargAngie C. JelinJohn BoscardinMary E. NortonTeresa N. Sparks Prenatal Diagnosis . 2023,第2期

机译：A systematic review and meta‐analysis of cell‐free DNA testing for detection of fetal sex chromosome aneuploidy

Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates

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