Results 21 to 30 of about 22,195,386 (187)

Prenatal diagnosis and genetic counseling of mosaicism for chromosome t (7; 14) with a favorable outcome

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

The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

Frontiers in Pediatrics, 2021
Background: An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR ...
Yu'e Chen, Yingjun Xie, Yingjun Xie, Yuying Jiang, Qi Luo, Lijing Shi, Shuhong Zeng, Jianlong Zhuang, Guorong Lyu   +8 more
doaj   +1 more source

Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory [PDF]

Molecular Cytogenetics, 2014
Cytogenetic evaluation of products of conception (POC) for chromosomal abnormalities is central to determining the cause of pregnancy loss. We compared the test success rates in various specimen types and the frequencies of chromosomal abnormalities detected by G-banding analysis with those found by Oligo-SNP chromosomal microarray analysis (CMA).
Wang, Boris T, Chong, Thomas P, Boyar, Fatih Z, Kopita, Kimberly A, Ross, Leslie P, El-Naggar, Mohamed M, Sahoo, Trilochan, Wang, Jia-Chi, Hemmat, Morteza, Haddadin, Mary H, Owen, Renius, Anguiano, Arturo L   +11 more
openaire   +2 more sources

Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family

Molecular Cytogenetics, 2022
Background Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected person is not or only minimally clinically affected.
Ying Zhang, Juan Chen, Zonghui Feng, Wencheng Li   +3 more
doaj   +1 more source

A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization

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, Marina E. Minzhenkova, Lyudmila A. Bessonova, Nadezda V. Shilova   +3 more
doaj   +1 more source

Abnormal chromosomes identification using chromosomal microarray

, 2022
In this study, we presented a case series to highlight the chromosomal microarray (CMA) in identifying chromosomal abnormalities which is undetectable by conventional karyotyping or known abnormal chromosomes without clear diagnosis.
Duan Ju (12785599), Xiaozhou Li (1935481), Yan Li (23143), Yunfang Shi (12785596), Xiuling Zhang (284662), Ying Zhang (40767)   +5 more
core   +2 more sources

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis [PDF]

, 2011
Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown.
Julián Nevado, García Pérez, Lidia, Mansilla, Elena, Nevado, Julián, Pablo Daniel Lapunzina, Armengol i Dulcet, Lluís, Cristina Preciado, Serra Juhé, Clara, 1984-, García Aragonés, Manel, Lluís Armengol, María Ángeles Mori, Mediano, Carmen, Manel García-Aragonés, Villa Marcos, Olaya, Mori, María Ángeles, Luis Alberto Pérez-Jurado, Fe Amalia García-Santiago, Luis Fernández, García Santiago, Fe Amalia, Fernández, Luis, Elena Mansilla, Preciado, Cristina, Clara Serra-Juhé, Lidia García-Pérez, Lapunzina, Pablo Daniel, Pérez Jurado, Luis Alberto, Olaya Villa, Carmen Mediano, Alberto Plaja   +28 more
core   +1 more source

Microarray data mining using Bioconductor packages [PDF]

, 2009
Background - This paper describes the results of a Gene Ontology (GO) term enrichment analysis of chicken microarray data using the Bioconductor packages.
Leunissen JA, van der Poel, J.J., van der Poel J, Martien AM Groenen, Neerincx, P., Groenen, M.A.M., Pieter BT Neerincx, Francesco Ferrari, Nie H, Neerincx PB, Nie, H., Silvio Bicciato, Ferrari, F., Groenen MA, Haisheng Nie, Leunissen, J.A.M., Bicciato, S., FERRARI, Francesco, Poel, J.J., van der, Jan Poel, Jack AM Leunissen, BICCIATO, Silvio   +21 more
core   +1 more source

Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies [PDF]

Genomics & Informatics, 2017
Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD ...
Sun Ho Lee, Wung Joo Song
doaj   +1 more source

Molecular diagnosis of cytogenetic abnormalities in patients with schizophrenia

European Psychiatry, 2022
Introduction Schizophrenia is a severe and chronic disorder causing significant disability and functional decline. Schizophrenia is a polygenic disease, with about 100 monogenic sites and 11 sites of chromosomal deletions / duplications involved in its ...
M. Bar Shai, A. Peleg, T. Zalozhin
doaj   +1 more source