Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf–Hirschhorn syndrome
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynaecology
Reference13 articles.
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3. Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances;Kjaergaard;Prenat Diagn,2010
4. Genotype–phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review;Hemmat;Mol Cytogenet,2013
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Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Wolf–Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly;Taiwanese Journal of Obstetrics and Gynecology;2020-05
2. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones;Taiwanese Journal of Obstetrics and Gynecology;2017-12
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