Results 41 to 50 of about 59,286 (281)

Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution [PDF]

, 2010
Chromosomal rearrangements and copy number variants (CNVs) play key roles in genome evolution and genetic disease; however, the molecular mechanisms underlying these types of structural genomic variation are not fully understood.
Skinner, Benjamin M., Bunzey, Sydney K., Ellegren, Hans, Völker, Martin, Backström, Niclas, Langley, Elizabeth J, Griffin, Darren K.   +6 more
core   +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

The chromosomal microarray analysis (CMA) used for examination of products of conception

, 2020
Chromosomal aberrations in the product of conceptions (POC) are detected in around 50% lost pregnancies. Karyotype analysis of the POC, limited by high failure rate of culture, is not always carried out.
Kanivets I., Korostelev S., Totchiev G., Pyankov D., Gnetetskaya V.   +4 more
core   +2 more sources

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

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

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

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  

Empirical Bayesian models for analysing molecular serotyping microarrays

, 2011
Background Microarrays offer great potential as a platform for molecular diagnostics, testing clinical samples for the presence of numerous biomarkers in highly multiplexed assays.
Hinds Jason, Richard Newton, Newton Richard, Hinds, J, Wernisch, L, Lorenz Wernisch, Jason Hinds, Wernisch Lorenz, Newton, R   +8 more
core   +1 more source

Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing [PDF]

, 2023
Objective: In the study, we investigated the genetic etiology of the ventricular septal defect (VSD) and comprehensively evaluated the diagnosis rate of prenatal chromosomal microarray analysis (CMA) and exome sequencing (ES) for VSD to provide evidence ...
Ruibin Huang, Ru Li, You Wang, Fang Fu, Dongzhi Li, Can Liao   +5 more
core   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source