Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis
نویسندگان
چکیده
منابع مشابه
P-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 کاملArray CGH in Fetal Medicine Diagnosis
About 2% to 5% of live births have at least one identifiable congenital anomaly at birth (Kalter and Warkany, 1983), ranging from mild to severe abnormalities that compromise the survival. Congenital malformations have been showing increasing importance as a cause of suffering and harm to health of the population, accounting for a large percentage of perinatal morbidity and mortality (De Galan-...
متن کاملWhole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong
OBJECTIVE To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong. METHODS Array CGH was performed on 220 samples recruited prospectively as the first-tier test study. In addition 150 prenatal samples with abnormal fetal ultrasound findings found to have normal karyotypes were analyzed as a 'further-test' study using Nimb...
متن کاملMolecular karyotyping using an SNP array for genomewide genotyping.
BACKGROUND Chromosomal imbalances are a major cause of developmental defects as well as cancer and often constitute the key in identification of novel disease related genes. Classical cytogenetic methods are limited in resolution and dependent on highly skilled labour, while methods with higher resolution, based on molecular cytogenetics approaches such as matrix CGH, are not widely available. ...
متن کاملI-45: FISH and Array CGH for PGD of Cancer
We developed several FISH approaches to enable preimplantation genetic diagnosis of cancer predisposition syndromes. An overview of the applications and the results of those PGDs will be provided. In addition we developed several novel tools to genome wide screen for CNVs and SNPs in single cells. Those technologies are now being applied for polar body, blastomere and blastocyst screening for c...
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ژورنال
عنوان ژورنال: Journal of Histochemistry & Cytochemistry
سال: 2005
ISSN: 0022-1554,1551-5044
DOI: 10.1369/jhc.4a6436.2005