Results 1 to 10 of about 22,260,529 (233)
Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia [PDF]
Frontiers in Genetics, 2021 Schizophrenia is a chronic, devastating mental disorder with complex genetic components. Given the advancements in the molecular genetic research of schizophrenia in recent years, there is still a lack of genetic tests that can be used in clinical ...
Chia-Hsiang Chen +4 more
doaj +3 more sources
Chromosomal microarray analysis vs. karyotyping for fetal ventriculomegaly: a meta-analysis
Chinese Medical Journal, 2022 . Background:. Chromosomal abnormalities are important causes of ventriculomegaly (VM). In mild and isolated cases of fetal VM, obstetricians rarely give clear indications for pregnancy termination.
Yan Sun +5 more
doaj +3 more sources
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 +12 more
doaj +1 more source
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 +6 more
doaj +2 more sources
PLoS ONE, 2021 Spontaneous abortion is an impeding factor for the success rates of human assistant reproductive technology (ART). Causes of spontaneous abortion include not only the pregnant mothers' health conditions and lifestyle habits, but also the fetal ...
Sen Li +8 more
doaj +2 more sources
Clinics and Practice, 2016 A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses.
Akiko Takashima +2 more
doaj +1 more source
Molecular Cytogenetics, 2018 Background Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes.
Ahmet Cevdet Ceylan +5 more
doaj +1 more source
Molecular Cytogenetics, 2021 Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced t(9;17 ...
Zhanna G. Markova +3 more
doaj +1 more source
Clinical and Experimental Obstetrics & Gynecology, 2020 We report a case of prenatal diagnosis of mosaicism for chromosome t (7; 14) with a favorable fetal outcome. Similar chromosomal abnormalities have been observed in patients with hematologic malignancy.
D. Lu, D. Cao, Q. Zhao, X. Chen
doaj +1 more source
High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder
BMC Medical Genomics, 2017 Background Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours.
Edna Grünblatt +8 more
doaj +1 more source