Concepedia

Clinical application of chromosomal microarray analysis in fetuses with increased nuchal translucency and normal karyotype

Linjuan Su, Hailong Huang, Gang An, Meiying Cai, Xiaoqing Wu, Ying Li, Xiaorui Xie, Yuan Lin, Meiying Wang, Liangpu Xu

Molecular Genetics & Genomic Medicine · 2019 · 29 citations · 18 references

DOIFull text

Open access

Abstract

CMA improved the diagnostic yield of chromosomal aberrations for fetuses with NTs of 2.5-3.4 mm and apparently normal karyotype, regardless of whether other ultrasonic abnormalities were observed.

References

18

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Laura K. Conlin, Brian Thiel, Carsten G. Bönnemann et al. · Human Molecular Genetics · 2010 · 496 citations · Full text

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Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients

Christine Carlson, Howard I. Sirotkin, Raj K. Pandita et al. · The American Journal of Human Genetics · 1997 · 357 citations · Full text

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Femke Hannes, Andrew J. Sharp, Heather C. Mefford et al. · Journal of Medical Genetics · 2008 · 346 citations · Full text

Committee Opinion No.682: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology

Obstetrics and Gynecology · 2016 · 273 citations

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Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

Erin L. Heinzen, Rodney A. Radtke, Thomas Urban et al. · The American Journal of Human Genetics · 2010 · 258 citations · Full text