Results 251 to 260 of about 59,286 (281)

Chromosomal microarray analysis in pregnancies at risk for a molecular disorder

The Journal of Maternal-Fetal & Neonatal Medicine, 2019
Objective: The aim of this study was to evaluate the utility of chromosomal microarray (CMA) in patients who were solely referred for molecular diagnosis.Methods: During a 2-year period, CMA was the patients' choice, whether to opt for it or not, for those at risk for fetal hemoglobin Bart's disease or β-thalassemia major who were referred for invasive
Dong-Zhi, Li, Hai-Shen, Tang
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Clinical Application of Chromosome Microarray Analysis in the Diagnosis of Lipomatous Tumors

Applied Immunohistochemistry & Molecular Morphology, 2021
Well-differentiated liposarcoma/atypical lipomatous tumor (WDLS/ALT) and dedifferentiated liposarcoma (DDLS) have characteristic supernumerary ring and giant marker chromosomes involving the chromosomal region 12q13-15 which contains MDM2 (12q15), CDK4 (12q14.1), HMGA2 (12q14.3), YEATS4 (12q15), CPM (12q15), and FRS2 (12q15).
Jianming, Pei, Douglas B, Flieder, Jacqueline N, Talarchek, Harry S, Cooper, Arthur S, Patchefsky, Shuanzeng, Wei   +5 more
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Chromosomal microarray analysis of patients with Duane retraction syndrome

International Ophthalmology, 2018
Duane retraction syndrome (DS) is a rare congenital strabismus with genetic heterogeneity. The genetic causes of DS are not always of monogenic origin; various chromosomal copy number variations (CNVs) have also been reported. The objective of our study was to characterize the CNVs, including gains and losses detected by high-resolution chromosomal ...
Leyla Niyaz, Sengul Tural, Ozlem Eski Yucel, Ertuğrul Can, Nursen Ariturk, Zulfinaz B. Celik, Esra Tekcan, Nurten Kara   +7 more
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Ascertainment of Recurrent Translocations by Chromosomal Microarray Analysis

Cancer Genetics, 2012
s 421 Detection and characterization of recurrent translocations play an important role in the diagnosis and treatment of hematological disorders. Chromosomal microarray analysis (CMA) is a powerful tool to detect copy number changes in hematological disorders.
Guangyu Gu, Maria Sederberg, Christian Paxton, Leslie Rowe, Katherine Geiersbach, Sarah South   +5 more
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Analysis of Chromosome Translocations Involving MML by Hybridization with an Oligonucleotide Microarray

Molecular Biology, 2004
Identification of chromosome rearrangements is of importance for exact diagnosis, risk assessment, and therapy in blood malignancies. A new method was proposed for rapid and accurate identification of leukemia forms caused by chromosome rearrangements involving MLL (11q23).
O N, Mitiaeva, T V, Nasedkina, V S, Zharinov, E A, Isaeva, A Iu, Turygin, V V, Chupeeva, E Ia, Kreĭndlin, A D, Mirzabekov   +7 more
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[Chromosomal microarray analysis for the causes of miscarriage or stillbirth].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
To assess the value of chromosomal microarray analysis (CMA) for the analysis of 824 samples from miscarriage or stillbirth.Copy number variations (CNVs) in the abortic chorionic villi or stillbirth tissues were detected by CMA.All specimens were successfully analyzed, among which 381 (46.2%) were diagnosed with chromosomal abnormalities, which ...
Yanhua, Xiao, Panlai, Shi, Ding, Li, Jianhong, Wang, Rui, Li, Xiangdong, Kong   +5 more
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[Chromosomal microarray analysis of 2000 pediatric cases].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2016
To assess the feasibility of chromosomal microarray analysis(CMA) for studying the correlation between birth defects and chromosomal aberrations.A total of 2000 patients with birth defects were recruited for the CMA testing.Five hundred twenty two patients (26.1%) were found to have chromosomal abnormalities.
Haiming, Yuan, Junping, Zhu, Xiaoyan, Deng, Mengfan, Chen, Xinwei, Li, Qiuli, Li, Fen, Lyu   +6 more
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ACMG Updates Chromosomal Microarray Analysis Guidelines

American Journal of Medical Genetics Part A, 2022
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Chromosomal Microarray Analysis Detection of Microdeletion on Chromosome 17 in Fetus

International Journal of Clinical Case Reports and Reviews
Backgroud:17p12microdeletion syndrome is a relatively rare chromosomal abnormality, which was accompanied with phenotypic variability. The reports on prenatal ultrasound abnormalities of fetus with 17p12 microdeletion are rare. Here we reported a case found by abnormal ultrasound appearance and verified by chromosomal microarray analysis.
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[Chromosomal microarray analysis for lateral ventriculomegaly in fetus].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2016
To investigate the relationship between fetal lateral ventriculomegaly and chromosomal microarray analysis (CMA) abnormalities.Fifty fetuses with lateral ventriculomegaly detected by ultrasound and a normal karyotype were included. Forty four fetuses were classified as mild ventriculomegaly (MVM), in which the lateral ventricular atrium was 10-15 mm ...
Zhiqiang, Zhang, Yingjun, Xie, Jianzhu, Wu, Xiaodan, Chen, Shaobin, Lin, Yuanjun, Ji, Weiying, Jiang, Qun, Fang, Baojiang, Chen   +8 more
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