Retards mentaux d’origine génétique

Goldenberg, Anna; Saugier-Veber, Pascale

doi:10.1016/j.patbio.2009.09.013

Cited by 10 publications

(8 citation statements)

References 39 publications

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“…The same holds true for recurrent microdeletions that are large enough to be visible under the microscope. These microdeletions include a number of conditions with recognizable clinical features, including Prader-Willi and Angelman, Williams, Smith-Magenis, Miller-Dieker, and DiGeorge syndromes, most of which have now been explained by haploinsufficiency of specific genes (e.g., 3,56,91,140,154).…”

Section: Chromosomal Aberrationsmentioning

confidence: 99%

Genetics of Early Onset Cognitive Impairment

Ropers

2010

Annu. Rev. Genom. Hum. Genet.

318

284

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Intellectual disability (ID) is the leading socio-economic problem of health care, but compared to autism and schizophrenia, it has received very little public attention. Important risk factors for ID are malnutrition, cultural deprivation, poor health care, and parental consanguinity. In the Western world, fetal alcohol exposure is the most common preventable cause. Most severe forms of ID have genetic causes. Cytogenetically detectable and submicroscopic chromosomal rearrangements account for approximately 25% of all cases. X-linked gene defects are responsible in 10-12% of males with ID; to date, 91 of these defects have been identified. In contrast, autosomal gene defects have been largely disregarded, but due to coordinated efforts and the advent of next-generation DNA sequencing, this is about to change. As shown for Fra(X) syndrome, this renewed focus on autosomal gene defects will pave the way for molecular diagnosis and prevention, shed more light on the pathogenesis of ID, and reveal new opportunities for therapy.

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Section: Chromosomal Aberrationsmentioning

confidence: 99%

Genetics of Early Onset Cognitive Impairment

Ropers

2010

Annu. Rev. Genom. Hum. Genet.

318

284

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“…Informations were obtained on onset age and progression, the quality of sleeping, nutrition, social behavior and status regarding being clean by day and night. This record ended by family's tree drawing (Goldenberg and Saugier-Veber, 2010). Psychomotor evaluation was based on gross motor milestone checking.…”

Section: Patient and Methodsmentioning

confidence: 99%

“….) and nonsyndromic intellectual and developmental disability (no other symptoms apart from the developmental delay) (Goldenberg et al, 2010). The nest steps in the global evaluation of a child with intellectual and developmental disability is laboratory investigation.…”

Section: Diagnosis Processmentioning

confidence: 99%

Management of Children with Intellectual and Developmental Disability in an African Setting

Alao¹,

Ayivi²,

Lacombe³

2012

Latest Findings in Intellectual and Developmental Disabilities Research

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“…The International System for Human Cy-togenetic Nomenclature (ISCN) was published in 1978 (33), followed by the latest update in 2009 (9), whereas a canine numerical banding-based nomenclature, following the ISCN, was first proposed in 1996 (26). Cytogenetics have become an important diagnostic tool in human prenatal diagnostics, in certain patients with mental retardation and multiple birth defects, patients with abnormal sexual development, and in some cases of infertility or multiple miscarriages (4,5,20,46).…”

Section: Molecular Cytogeneticsmentioning

confidence: 99%

Genetic characterization of dogs via chromosomal analysis and array-based comparative genomic hybridization (aCGH)

Müller

Reimann-Berg²,

Bullerdiek³

et al. 2012

Tierarztl Prax Ausg K

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SummaryThe results of cytogenetic and molecular cytogenetic investigations revealed similarities in genetic background and biological behaviour between tumours and genetic diseases of humans and dogs. These findings classify the dog a good and accepted model for human cancers such as osteosarcomas, mammary carcinomas, oral melanomas and others. With the appearance of new studies and advances in canine genome sequencing, the number of known homologies in diseases between these species raised and still is expected to increase. In this context, array-based comparative genomic hybridization (aCGH) provides a novel tool to rapidly characterize numerical aberrations in canine tumours or to detect copy number aberrations between different breeds. As it is possible to spot probes covering the whole genome on each chip to discover copy number aberrations of all chromosomes simultaneously, this method is time-saving and cost-effective – considering the relation of costs and the amount of data obtained. Complemented with traditional methods like karyotyping and fluorescence in situ hybridization (FISH) analyses, the aCGH is able to provide new insights into the underlying causes of canine carcinogenesis.

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Retards mentaux d’origine génétique

Cited by 10 publications

References 39 publications

Genetics of Early Onset Cognitive Impairment

Genetics of Early Onset Cognitive Impairment

Management of Children with Intellectual and Developmental Disability in an African Setting

Genetic characterization of dogs via chromosomal analysis and array-based comparative genomic hybridization (aCGH)

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