نتایج جستجو برای: array cgh
تعداد نتایج: 134291 فیلتر نتایج به سال:
OBJECTIVE The goal was to develop methods for detection of chromosomal and subchromosomal abnormalities in fetal cells in the mother's circulation at 10-16 weeks' gestation using analysis by array comparative genomic hybridization (CGH) and/or next-generation sequencing (NGS). METHOD Nucleated cells from 30 mL of blood collected at 10-16 weeks' gestation were separated from red cells by densi...
OBJECTIVES Array-comparative genomic hybridization (aCGH) is a high-throughput method to detect and map copy number aberrations in the genome. Multi-step analysis of high-dimensional data requires an integrated suite of bioinformatic tools. In this paper we detail an analysis pipeline for array CGH data. METHODS We developed an analysis tool for array CGH data which supports single and multi-...
The importance of cytogenetically visible rearrangements in human genetic disease has long been recognised and there is now abundant evidence showing that smaller, less readily detectable chromosomal rearrangements can also be clinically important. The full significance and extent to which such cryptic rearrangements contribute to human genetic disease has yet to be determined. One way of eluci...
BACKGROUND Krabbe disease is an autosomal recessive lysosomal storage disorder caused by mutations in the GALC gene. The most common mutation in the Caucasian population is a 30-kb deletion of exons 11 through 17. There are few other reports of intragenic GALC deletions or duplications, due in part to difficulties detecting them. METHODS AND RESULTS We used gene-targeted array comparative gen...
Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD). There are different whole genome or targeted techniques to identify CNVs in the patients including karyotyping, multiplex ligation-dependent probe amplification (MLPA) and array CGH. In this study, we used karyotyping and ML...
AIM The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application. MATERIAL AND METHODS The cohort included seven children with developmental delay or intelle...
Partial trisomy 8q is rare and has distinctive clinical features, including severe mental retardation, growth impairment, dysmorphic facial appearances, cleft palate, congenital heart disease, and urogenital anomalies. Partial monosomy 13q is a rare genetic disorder displaying a variety of phenotypic characteristics including mental retardation, dysmorphic facial features, and congenital anomal...
BACKGROUND/AIM To investigate the diagnostic value of bacterial artificial chromosome (BAC)-based array comparative genomic hybridization (CGH) and chromosome analysis in prenatal diagnosis. MATERIALS AND METHODS This study included the chromosome analysis and BAC-based array CGH analysis of 140 amniocentesis samples with prenatal diagnosis indications. RESULTS Karyotype analysis showed tri...
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