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Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening.

作者信息

Kontos Harry, Manolakos Emmanouil, Malligiannis Pantelis, Plachouras Nicolaos, Ploumis Nikolaos, Mihalatos Markos, Orru Sandro, Anastasiadou Ema, Petersen Michael B

出版信息

Prenat Diagn. 2008 Jun;28(6):556-8. doi: 10.1002/pd.2020.

DOI:10.1002/pd.2020
PMID:18509863
Abstract
摘要

相似文献

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Prenat Diagn. 2008 Jun;28(6):556-8. doi: 10.1002/pd.2020.
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Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y.多重连接依赖探针扩增技术（MLPA）在产前诊断中的应用——对13、18、21、X和Y染色体非整倍体进行大量快速检测的经验
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Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances.通过对微缺失综合征和亚端粒不平衡进行 MLPA 补充产前中期核型分析，提高诊断率。
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Front Pediatr. 2023 Mar 17;11:1141665. doi: 10.3389/fped.2023.1141665. eCollection 2023.
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Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy.基于孕早期疑似胎儿肌张力减退的威廉姆斯-贝伦综合征产前诊断
Cureus. 2023 Feb 10;15(2):e34841. doi: 10.7759/cureus.34841. eCollection 2023 Feb.
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Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis.
通过超声和染色体微阵列分析对威廉斯-贝伦综合征进行产前诊断。
Mol Cytogenet. 2022 Jun 28;15(1):27. doi: 10.1186/s13039-022-00604-2.
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Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.威廉斯-贝伦综合征及相互重复综合征的产前表型。
Clin Case Rep. 2014 Apr;2(2):25-32. doi: 10.1002/ccr3.48. Epub 2014 Feb 6.