Diagnóstico citogenético de pacientes com retardo mental idiopático

Linhares, Natália Duarte; Svartman, Marta; Valadares, Eugênia Ribeiro

doi:10.1590/s1676-24442012000100007

Cited by 5 publications

(7 citation statements)

References 43 publications

(45 reference statements)

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“…Karyotype examination is recommended as a first step in the laboratory investigation of cases of ID [23,24]. A systematic review [19] demonstrated that, in various studies, chromosomal abnormalities were found, on average, in 10% of the patients analyzed.…”

Section: Cytogenetic Diagnosis and Analysis Of The Clinical Profile Omentioning

confidence: 99%

“…Intellectual disability is also considered an incomplete or inhibited state of development of the intellect, occurring in about 1-3% of the population, causing impairment in cognitive, linguistic, motor and social components of the intelligence of the individual [2]. In the World Health Organization WHO-CID 10 [3], the definition of ID is based on quantitative criteria for classification and, according to the result obtained in IQ tests, it can be classified as mild, moderate, severe, and profound.…”

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confidence: 99%

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Cytogenetic Diagnosis and Analysis of the Clinical Profile of Individuals with Non-down Syndrome Intellectual Disability

Fantin¹,

Prazeres²,

Benzaquem³

et al. 2017

JPP

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Abstract:Chromosomal alterations are the main causes of genetic diseases. One of the characteristics of certain genetic syndromes is ID (intellectual disability) presented by the individual in varying degrees. The study of the ID, its etiology, association or not with chromosomal abnormalities and a clinical diagnosis associated with the examination of karyotype are important aspects to consider when providing genetic counseling for families. Due to the lack of similar studies and of easy access to cytogenetic services for the Amazonian population, this study aimed to contribute to the advancement of this line of study in the state, analyzing the karyotype of individuals with ID, not Down Syndrome treated at the APAE-Manaus and identifying the main types of chromosomal alterations in the individuals analyzed. Analyzes were performed of the clinical diagnosis through investigation of the data from the interview and medical records as well as analysis of the karyotype of 31 patients with non-Down syndrome ID, attended in the APAE-Manaus. Of these subjects, 20 were female and 11 male. The results showed only 2 cases of chromosome abnormalities are detectable by classical cytogenetics, one of mosaic Turner syndrome and one a heterochromatic variant. It is therefore necessary to complement the study with the addition of molecular techniques for the investigation of microdeletions and/or other alterations not detectable through the banding technique, mainly for individuals whose dysmorphisms indicate a suspected syndrome.

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Section: Cytogenetic Diagnosis and Analysis Of The Clinical Profile Omentioning

confidence: 99%

mentioning

confidence: 99%

Cytogenetic Diagnosis and Analysis of the Clinical Profile of Individuals with Non-down Syndrome Intellectual Disability

Fantin¹,

Prazeres²,

Benzaquem³

et al. 2017

JPP

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“…The X-Fragile Syndrome (FXS) was first described in 1943 by Martin and Bell, after analyzing a family composed of eleven men who had severe cognitive deficits, children of normal mothers. After the structuring of the family heredogram, it was suggested that it was an X-linked inheritance disease, characterizing the form of transmission between members of the same family (Linhares et al, 2012). It is estimated that 3% of the world population has some kind of cognitive deficit, 40% of which is associated with X chromosome abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Research Article Molecular Diagnosis of X-Fragile Syndrome: Perspectives for the Public Health System in the Central Region of Brazil

Penteado¹,

Gressler²,

Cruz³

et al. 2017

Genet. Mol. Res.

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X-Fragile Syndrome (FXS) is the most common cause of inherited intellectual disability and the second of genetic origin, with an estimated prevalence of 1/4000 men and 1/6000 women. The etiology is associated with a trinucleotide expansion of CGG sequences and hypermethylation of the promoter region of the FMR1 (Fragile-X Mental Retardation-1) gene, located in the Xq27.3 region. Symptoms occur due to lack of Fragile X Mental Retardation Protein (FMRP), essential for dendrites growth and synaptic function. This syndrome is commonly underdiagnosed in children and adolescents due to the high phenotypic variability of patients and the need for a complex and high cost laboratory diagnosis. This research aims to evaluate individuals referred by the public health system of Goiás presenting intellectual deficiency suggestive of FXS and submitted to molecular diagnosis by PCR. Thirty-one patients, ranging in age from 4 to 41 years, were analyzed. It was possible to detect molecular alterations in the FMR1 gene in 6 patients with complete mutations, consistent with the observed phenotypes. The use of molecular techniques associated with capillary electrophoresis in an automatic genetic analyser demonstrated rapid and efficient investigation of CGG repeats in the FMR1 gene. Its inclusion in the public health service, in addition to universalizing access to genetic tests in Brazil, bridging the gap between effective diagnosis and the technologies available until Vieira TC, et al. 2 Genetics and Molecular Research 16 (4): gmr16039848 now, has supported families in clarifying the etiology and assessing the risk of recurrence through genetic counselling.

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“…The clinical consequences of a chromosome rearrangement are generally related to its location, size, and the quantity of genes involved and their function. 3 Patients with suspected chromosome anomalies are initially indicated for the karyotype test, with G-banding, a conventional cytogenetic technique. Chromosomes are analyzed microscopically in metaphase with a resolution of 400 to 550 bands.…”

Section: Introductionmentioning

confidence: 99%

Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

Pratte-Santos

Ribeiro

Santos

et al. 2016

Einstein (São Paulo)

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Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype.Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients.Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants.Conclusion The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment.

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Diagnóstico citogenético de pacientes com retardo mental idiopático

Cited by 5 publications

References 43 publications

Cytogenetic Diagnosis and Analysis of the Clinical Profile of Individuals with Non-down Syndrome Intellectual Disability

Cytogenetic Diagnosis and Analysis of the Clinical Profile of Individuals with Non-down Syndrome Intellectual Disability

Research Article Molecular Diagnosis of X-Fragile Syndrome: Perspectives for the Public Health System in the Central Region of Brazil

Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

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