Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

Vissers, Lisenka E.L.M.; Vries, Bert B.A. de; Veltman, Joris A.

doi:10.1136/jmg.2009.072942

Cited by 139 publications

(123 citation statements)

References 101 publications

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“…1,2,[5][6][7][8][9][10][11][12] We also examined primary articles and reviews of CNVs in autism, 13 schizophrenia, 14 mental retardation, 15 and congenital heart disease 16 for references to studies reporting subjects with 1q21.1 duplications. [17][18][19][20] Other citations involving 1q21.1 duplication cases were also assessed.…”

Section: Materials and Methods Literature Reviewmentioning

confidence: 99%

1q21.1 Microduplication expression in adults

Dolcetti

Silversides

Marshall

et al. 2013

Genetics in Medicine

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Section: Materials and Methods Literature Reviewmentioning

confidence: 99%

1q21.1 Microduplication expression in adults

Dolcetti

Silversides

Marshall

et al. 2013

Genetics in Medicine

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“…33 Consequently, it remains within the judgment of the medical geneticist as to whether it is warranted to test the patient with mild (and familial) ID for pathogenic CNVs. In their review, Vissers et al 25 reported on several recurrent deletion or duplication syndromes with mild disability and commented on the variable penetrance of the more common CNV conditions, such as 1q21.1 microdeletion, 1q21.1 microduplication, 3q29 microduplication, and 12q14 microdeletion. Some of these are also inherited.…”

Section: Diagnosismentioning

confidence: 99%

“…Nevertheless, the diagnostic yield for all current CMA is estimated at 12% for patients with GDD/ID. [14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29] CMA is the single most efficient diagnostic test, after the history and examination by a specialist in GDD/ID.…”

Section: Diagnosismentioning

confidence: 99%

Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

Moeschler¹,

Shevell²,

Saul³

et al. 2014

Pediatrics

461

421

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Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports, most consisting of medium to large case series of diagnostic tests used, and the proportion of those that led to a diagnosis in such patients. Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. Fragile X testing remains an important first-line test. The importance of considering testing for inborn errors of metabolism in this population is supported by a recent systematic review of the literature and several case series recently published. The role of brain MRI remains important in certain patients. There is also a discussion of the emerging literature on the use of whole-exome sequencing as a diagnostic test in this population. Finally, the importance of intentional comanagement among families, the medical home, and the clinical genetics specialty clinic is discussed.

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“…Genome-wide array-based testing aimed at uncovering the genetic basis of a child's hitherto unexplained intellectual disability or other complex disorder may be the only way to arrive at a diagnosis necessary for the adequate treatment and care of that child [Vissers et al, 2010]. If so, beneficence-based professional obligations toward the child may justify the provision of such testing, even though it comes at the price of possibly also generating outcomes that may sometimes lead to difficult decision making.…”

Section: Parental Consent For Genome-wide Array-based Testing Of Chilmentioning

confidence: 99%

“…Postnatally, this mainly concerns the clarification of unexplained intellectual disability and other heterogeneous conditions affecting young children [Vissers et al, 2010]. Prenatally, genome-wide arrays are increasingly being used in pregnancies with ultrasound abnormalities [Vetro et al, 2012], while proposals have also been made for using this technology as an alternative for karyotyping in low-risk pregnancies [Ogilvie et al, 2009].…”

Section: Introductionmentioning

confidence: 99%

Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent

et al. 2012

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ABSTRACT:The introduction of genome-wide arrays in postnatal and prenatal diagnosis raises challenging ethical issues. Here, we explore questions with regard to the ethics of consent. One important issue is whether informed consent for genome-wide array-based testing is in fact feasible, given the wide range of possible outcomes and related options. The proposed alternative of "generic consent" will have to be studied in practice. From an ethical point of view, the question is whether consent would still be sufficiently "informed" in a generic approach. Another issue that has not yet been given much attention is how far parents, or pregnant women and their partners, should be allowed to determine the range of possible outcomes that will or will not be reported back to them. The scope and limits of parents' and prospective parents' right to know or not to know are far from clear. The complex normative issues on the content and weight of these rights can only be answered by taking full account of the rights and interests of all the parties involved: prospective and actual parents, children, and relatives. This paper is the result of a working group meeting preceding the European Society of Human Genetics 2011 Conference, where these issues were addressed.

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Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

Cited by 139 publications

References 101 publications

1q21.1 Microduplication expression in adults

1q21.1 Microduplication expression in adults

Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent

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