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Ascertainment of Recurrent Translocations by Chromosomal Microarray Analysis
Cancer Genetics, 2012s 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 +5 more
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Chromosomal microarray analysis of infertile men with azoospermia factor microdeletions
Gene, 2020Azoospermia factors, located in the long arm of the Y chromosome, are critical for spermatogenesis, the microdeletions of AZF are considered to be associated with male infertility. In addition to complete deletion, several AZFc partial deletions were also detected in infertile men with wide phenotypic heterogeneity.
Yan, Zhu +4 more
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Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome
Cytogenetic and Genome Research, 2019Williams-Beuren Syndrome (WBS; OMIM #194050) is a rare neurodevelopmental disorder that results from a deletion at 7q11.23 spanning 25-27 genes. We performed chromosomal microarray analysis (CMA) in 9 Taiwanese patients with WBS to confirm the diagnosis. These samples had already been examined by FISH and diagnosed as WBS.
Haung-Tsung, Kuo +4 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, 2016To 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 +6 more
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Mothers' appreciation of chromosomal microarray analysis for autism spectrum disorder
Journal for Specialists in Pediatric Nursing, 2015AbstractPurposeThe aim of this study was to examine mothers' experiences with chromosomal microarray analysis (CMA) for a child with autism spectrum disorder (ASD).Design and MethodsThis is a descriptive qualitative study using thematic content analysis of in‐depth interview with 48 mothers of children who had genetic testing forASD.ResultsThe ...
Ellen, Giarelli, Marian, Reiff
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Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis
Obstetrics & Gynecology, 2019OBJECTIVE: To examine the choices of women with both high-risk and low-risk pregnancies who are undergoing prenatal chromosomal microarray analysis in a clinical setting regarding three challenging types of findings: variants of uncertain clinical significance, susceptibility loci for neurodevelopmental disorders, and copy ...
Hagit, Hochner +10 more
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ACMG Updates Chromosomal Microarray Analysis Guidelines
American Journal of Medical Genetics Part A, 2022openaire +2 more sources
[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, 2016To 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 +8 more
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Chromosomal Microarray Analysis Detection of Microdeletion on Chromosome 17 in Fetus
International Journal of Clinical Case Reports and ReviewsBackgroud: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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