Genomic imbalances in mental retardation
نویسندگان
چکیده
منابع مشابه
Genomic imbalances in mental retardation.
INTRODUCTION It has been estimated that cytogenetically visible rearrangements are present in approximately 1% of newborns. These chromosomal changes can cause a wide range of deleterious developmental effects, including mental retardation (MR). It is assumed that many other cases exist where the cause is a submicroscopic deletion or duplication. To facilitate the detection of such cases, diffe...
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...
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 کاملWhole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation
Chromosomal imbalances are the major cause of mental retardation (MR). Many of these imbalances are caused by submicroscopic deletions or duplications not detected by conventional cytogenetic methods. Microarray-based comparative genomic hybridization (array-CGH) is considered to be superior for the investigation of chromosomal aberrations in children with MR, and has been demonstrated to impro...
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This small book is the first of a series of occasional papers which are to be published under the auspices of the Institute for Research into Mental Retardation, and its author is the chairman of the Institute's Research Committee. In the preface, it is said to be aimed at an intelligent lay audience and it is suggested that 'it will be read with interest and profit by workers in the field of m...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2004
ISSN: 1468-6244
DOI: 10.1136/jmg.2003.014308