Prenatal detection of unbalanced chromosomal rearrangements by array CGH
نویسندگان
چکیده
منابع مشابه
Prenatal detection of unbalanced chromosomal rearrangements by array CGH.
BACKGROUND Karyotype analysis has been the standard method for prenatal cytogenetic diagnosis since the 1970s. Although highly reliable, the major limitation remains the requirement for cell culture, resulting in a delay of as much as 14 days to obtaining test results. Fluorescent in situ hybridisation (FISH) and quantitative fluorescent PCR (QF-PCR) rapidly detect common chromosomal abnormalit...
متن کاملSingle-cell chromosomal imbalances detection by array CGH
Genomic imbalances are a major cause of constitutional and acquired disorders. Therefore, aneuploidy screening has become the cornerstone of preimplantation, prenatal and postnatal genetic diagnosis, as well as a routine aspect of the diagnostic workup of many acquired disorders. Recently, array comparative genomic hybridization (array CGH) has been introduced as a rapid and high-resolution met...
متن کاملP-243: Prenatal Diagnosis Using Array CGH: Case Presentation
Background: Karyotype analysis has been the standard and reliable procedure for prenatal cytogenetic diagnosis since the 1970s. However, the major limitation remains requirement for cell culture, resulting in a delay of as much as 14 days to get the test results.CGH array technology has proven to be useful in detecting causative genomic imbalances or genetic mutations in as many as 15% of child...
متن کاملSHORT REPORT Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
Chromosomal aberrations are a common cause of multiple anomaly syndromes that include growth and developmental delay and dysmorphism. Novel high resolution, whole genome technologies, such as array based comparative genomic hybridisation (array-CGH), improve the detection rate of submicroscopic chromosomal abnormalities allowing re-investigation of cases where conventional cytogenetic technique...
متن کاملDetection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).
Chromosomal aberrations are a common cause of multiple anomaly syndromes that include growth and developmental delay and dysmorphism. Novel high resolution, whole genome technologies, such as array based comparative genomic hybridisation (array-CGH), improve the detection rate of submicroscopic chromosomal abnormalities allowing re-investigation of cases where conventional cytogenetic technique...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2005
ISSN: 1468-6244
DOI: 10.1136/jmg.2005.037648