Results 31 to 40 of about 55,479 (231)

Chromosomal Microarray vs. NIPS: Analysis of 5541 Low-Risk Pregnancies [PDF]

Obstetrical & Gynecological Survey, 2019
(Abstracted from Genet Med 2019;21:2462–2467) Prenatal genetic testing is conducted today using a variety of methods: noninvasive prenatal screening (NIPS) and invasive prenatal testing with karyotyping and/or chromosomal microarray analysis (CMA).
Lena, Sagi-Dain, Lital, Cohen Vig, Sarit, Kahana, Shiri, Yacobson, Tamar, Tenne, Ifat, Agmon-Fishman, Cochava, Klein, Reut, Matar, Lina, Basel-Salmon, Idit, Maya   +9 more
openaire   +2 more sources

Visualization-based discovery and analysis of genomic aberrations in microarray data

BMC Bioinformatics, 2005
Background Chromosomal copy number changes (aneuploidies) play a key role in cancer progression and molecular evolution. These copy number changes can be studied using microarray-based comparative genomic hybridization (array CGH) or gene expression ...
Chen Xing, Myers Chad L, Troyanskaya Olga G   +2 more
doaj   +1 more source

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

Jornal de Pediatria (Versão em Português), 2015
Objectives: Clinical use of microarray‐based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first‐tier test. This study reports the first experience in
Guillermo Lay‐Son, Karena Espinoza, Cecilia Vial, Juan C. Rivera, María L. Guzmán, Gabriela M. Repetto   +5 more
doaj   +3 more sources

Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience

International Journal of General Medicine, 2021
Hailong Huang,1,* Meiying Cai,1,* Linyu Liu,1,2 Liangpu Xu,1 Na Lin1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian ...
Huang H, Cai M, Liu L, Xu L, Lin N
doaj  

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

Journal of International Medical Research, 2022
The 18q12.3 region contains the SET binding protein 1 (SETBP1) gene. SETBP1 mutations or deletions are associated with Schinzel–Giedion syndrome or intellectual developmental disorder, autosomal dominant 29.
Yaqing Zhou, Yan Quan, Yijun Wu, Yinxing Zhang   +3 more
doaj   +1 more source

A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)

Вопросы современной педиатрии, 2016
The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3).
Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin   +5 more
doaj   +1 more source

Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study

Risk Management and Healthcare Policy, 2021
Hailong Huang,1,* Meiying Cai,1,* Wei Ma,1,2 Na Lin,1 Liangpu Xu1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province ...
Huang H, Cai M, Ma W, Lin N, Xu L
doaj  

Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications

Taiwanese Journal of Obstetrics & Gynecology
Objective: To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation. Case report: We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 ...
Xiaolin Wang, Yujiao Wang, Xinqiang Lan
doaj   +1 more source

Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis

Human Genomics, 2022
Background Aneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies have focused on common trisomies, relatively little is known about the association between phenotypic ...
Rong Hu, Weiwei Huang, Weining Zhou, Xiaohui Luo, Congmian Ren, Huajie Huang, Yaping Hou, Li Guo, Wei He, Jian Lu   +9 more
doaj   +1 more source

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis

Molecular Cytogenetics, 2022
Background There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the ...
Ruibin Huang, Hang Zhou, Fang Fu, Ru Li, Tingying Lei, Yingsi Li, Ken Cheng, You Wang, Xin Yang, Lushan Li, Xiangyi Jing, Yongling Zhang, Fucheng Li, Dongzhi Li, Can Liao   +14 more
doaj   +1 more source