Results 1 to 10 of about 317,190 (282)

Chromosomal Microarray Testing and Epilepsy

Pediatric Neurology Briefs, 2014
Investigators at the Boston Children's Hospital, MA, and other centers evaluated the role of copy number variants (CNVs) detected using chromosomal microarray (CMA) testing in 805 patients seen between 2006 and 2011 and having ICD-9 codes for epilepsy or
J Gordon Millichap, John J Millichap
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Chromosomal Microarray Analysis in Fetuses with Ultrasound Abnormalities [PDF]

International Journal of General Medicine
Xiaoqin Chen,1,2 Liubing Lan,1,2 Heming Wu,1 Mei Zeng,1,2 Zhiyuan Zheng,1 Qiuping Zhong,2 Fengdan Lai,2 Yonghe Hu2 1Department of Prenatal Diagnostic Center, Meizhou People’s Hospital, Meizhou Academy of Medical Sciences, Meizhou, People’s Republic of ...
Chen X, Lan L, Wu H, Zeng M, Zheng Z, Zhong Q, Lai F, Hu Y   +7 more
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Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses [PDF]

Frontiers in Genetics
The purpose of this study was to assess the application value of chromosome microarray analysis (CMA) for prenatal diagnosis of fetuses with ultrasonic abnormalities.
Zhiyuan Zheng, Zhiyuan Zheng, Heming Wu, Heming Wu, Lingna She, Lingna She, Lingna She, Dandan Luo, Dandan Luo, Lifang Lin, Lifang Lin, Wei Guo, Wei Guo, Liubing Lan, Liubing Lan   +14 more
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Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery [PDF]

Brain and Spine
Over the past two decades, genomics has transformed our understanding of various clinical conditions, with Chromosomal Microarray Analysis (CMA) standing out as a key technique.
Wireko Andrew Awuah, Muhammad Hamza Shah, Vivek Sanker, Krishitha Meenu Mannan, Sruthi Ranganathan, Princess Afia Nkrumah-Boateng, Mabel Frimpong, Kwadwo Darko, Joecelyn Kirani Tan, Toufik Abdul-Rahman, Oday Atallah   +10 more
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A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018

Acta Obstetricia et Gynecologica Scandinavica, 2023
Introduction In 2011, it was decided to implement chromosomal microarray in prenatal testing in the Central Denmark Region, mainly due to the expected higher diagnostic yield.
Dorte Launholt Lildballe, Naja Becher, Else Marie Vestergaard, Rikke Christensen, Stina Lou, Puk Sandager, Lars Henning Pedersen, Kasper Gadsbøll, Olav Bjørn Petersen, Ida Vogel   +9 more
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A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening

Case Reports in Genetics, 2023
Concurrent microduplication and microdeletion of the chromosome 22q11.2 region are a rarely reported phenomenon. We describe a case of germline 22q11.21 microduplication syndrome with concurrent mosaic 22q11.2 deletion in a pregnant patient, identified ...
Melissa A. Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim   +4 more
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Multiple Congenital Anomalies: Meningoencephalocele, Labiopalatoschisis and Clubfoot with Normal Chromosomal Analysis

Indonesian Journal of Obstetrics and Gynecology, 2022
Objective : To perform chromosomal microarray when similar case was found. Methods: Case report Case : G1P0A0, 20 years-old, 23-24 weeks gestation, normal BMI, was diagnosed by ultrasonography with multiple congenital anomaly consisted by ...
Sefty M. Samosir, Angghea Rachmiawaty, Ita Fatati, Alamsyah Aziz   +3 more
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The prevalence of chromosomal deletions relating to developmental delay and/or intellectual disability in human euploid blastocysts. [PDF]

PLoS ONE, 2014
Chromosomal anomalies in human embryos produced by in vitro fertilization are very common, which include numerical (aneuploidy) and structural (deletion, duplication or others) anomalies.
Wenyin He, Xiaofang Sun, Lian Liu, Man Li, Hua Jin, Wei-Hua Wang   +5 more
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Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

Acta Obstetricia et Gynecologica Scandinavica, 2023
Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang, Yan Wang, Yiyun Xu, Ran Zhou, Mingtao Huang, Fengchang Qiao, Lulu Meng, An Liu, Jing Zhou, Li Li, Xiuqing Ji, Zhengfeng Xu, Ping Hu   +12 more
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A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings [PDF]

PeerJ, 2014
Purpose. To design and validate a prenatal chromosomal microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the ...
Joo Wook Ahn, Susan Bint, Melita D. Irving, Phillipa M. Kyle, Ranjit Akolekar, Shehla N. Mohammed, Caroline Mackie Ogilvie   +6 more
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