Guidelines for the Preparation and Analysis of the Fragile X Chromosome in Lymphocytes

Jacky, Peter B.; Ahuja, Y. R.; Anyane‐Yeboa, Kwame; Breg, W. Roy; Carpenter, Nancy J.; Froster-Iskenius, U.; Fryns, Jean‐Pierre; Glover, Thomas W.; Gustavson, Karl‐Henrik; Hoegerman, S.F.; Holmgren, Gösta; Howard‐Peebles, P. N.; Jenkins, Edmund C.; Krawczun, Michael S.; Neri, Giovanni; Pettigrew, Anjana L.; Schaap, Tamar; Schonberg, Steven; Shapiro, Lawrence R.; Spinner, Nancy B.; Steinbach, Peter; Vianna‐Morgante, Angela Maria; Watson, Michael S.; Wilmot, Patrick L.

doi:10.1002/ajmg.1320380249

Cited by 50 publications

(25 citation statements)

References 15 publications

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“…Functional diagnosis was based on the DSM-IV criteria for the PDDs 1 . Etiological diagnosis comprised cytogenetic analysis including techniques for fragile X chromosome 9 . Molecular studies of the FRAXA mutation using the PCR technique 10 and the Southern blotting technique 11 were also performed, as well as analysis for the FRAXE and FRAXF mutations following proper protocols 12,13 .…”

Section: Methodsmentioning

confidence: 99%

Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders

Steiner

Guerreiro

Marques-de-Faria

2003

Arq. Neuro-Psiquiatr.

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-With the aim of analyzing which complementary tests are relevant in the diagnostic evaluation of individuals with pervasive developmental disorders, a protocol of clinical and laboratory evaluation was applied in 103 outpatients. The protocol included chromosomal analysis, screening for inborn errors of metabolism, cytogenetic and molecular study of the FRAXA, FRAXE, and FRAXF mutations, EEG, SPECT, and magnetic resonance imaging study. Eighty-four subjects concluded the complementary tests and were classified either as having autism, atypical autism or Asperger syndrome according to the DSM-IV criteria. Sixteen individuals, all bellonging to the two autistic groups, presented genetic or enviromental factors that may have lead to the behavioral disorders, showing the importance of diagnostic evaluation in this group of conditions. Neuroimaging and EEG findings were non-specific and occurred in similar proportion among the groups, being considered of relative low significance in the diagnostic evaluation of individuals with pervasive developmental disorders.KEY WORDS: autism, Asperger syndrome, pervasive developmental disorders, fragile X syndrome, SPECT, magnetic resonance imaging.Avaliação genética e neurológica em uma amostra de indivíduos com transtornos globais do Avaliação genética e neurológica em uma amostra de indivíduos com transtornos globais do Avaliação genética e neurológica em uma amostra de indivíduos com transtornos globais do Avaliação genética e neurológica em uma amostra de indivíduos com transtornos globais do Avaliação genética e neurológica em uma amostra de indivíduos com transtornos globais do desenvolvimento desenvolvimento desenvolvimento desenvolvimento desenvolvimento RESUMO -Visando analisar quais exames complementares são relevantes na avaliação diagnóstica de uma amostra de indivíduos com transtornos globais do desenvolvimento, 103 pacientes atendidos em nível ambulatorial foram submetidos a um protocolo composto por avaliação clínica e exames complementares, os quais incluíam cariótipo, estudo molecular da síndrome do cromossomo X frágil, cromatografia de aminoácidos, EEG, SPECT e ressonância magnética. Foram selecionados 84 indivíduos que completaram a investigação laboratorial e apresentavam diagnóstico de autismo, autismo atípico ou síndrome de Asperger, de acordo com os critérios do DSM-IV. Em 16 indivíduos foram identificados distúrbios ambientais ou geneticamente determinados que podem ter causado o quadro comportamental, ressaltando a importância de uma avaliação diagnóstica meticulosa em tais casos. Os achados de neuroimagem e EEG foram inespecíficos e estiveram presentes em proporções semelhantes entre os três grupos, sendo considerados pouco elucidativos na avaliação diagnóstica de indivíduos com transtornos globais do desenvolvimento. PALAVRAS-CHAVE: autismo, síndrome de Asperger, transtornos globais do desenvolvimento, síndrome do cromossomo X frágil, SPECT, ressonância magnética. Pervasive developmental disorders (PDDs) are a heterogeneous group of neurobeha...

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Section: Methodsmentioning

confidence: 99%

Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders

Steiner

Guerreiro

Marques-de-Faria

2003

Arq. Neuro-Psiquiatr.

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“…Essa característica pode ser verificada pelo exame de cariótipo, desde que seja utilizada técnica específica para a pesquisa de sítios frágeis, situando-se em torno de 4% o percentual limite para que o resultado da análise citogenética seja considerado positivo 4 . Essa fragilidade cromossômica não é a causa, mas a expressão citogenética da mutação de um gene localizado nessa região.…”

Section: Aspectos Citogenéticos E Moleculares Da Síndrome Do X Frágilunclassified

Características da comunicação em indivíduos com a síndrome do X frágil

Yonamine

Silva

2002

Arq. Neuro-Psiquiatr.

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RESUMO -O objetivo deste estudo foi, a partir da avaliação de linguagem de um grupo de 10 meninos com idades variando entre 6 e 13 anos e com a síndrome do cromossomo X frágil (SXF), caracterizar o nível de comunicação desses indivíduos a partir de escalas de desenvolvimento normal. Constatou-se que dentro desta amostra, os indivíduos apresentaram predominantemente forma de comunicação linguística (80%), atingindo o nível máximo de até 3 anos de idade. Concluiu-se que os dados obtidos confirmam o significativo atraso na aquisição e desenvolvimento da comunicação, necessitando, portanto, de intervenção precoce e especializada.PALAVRAS-CHAVE: síndrome do X frágil, fala, linguagem, comunicação. Characteristics of the communication in individuals with fragile X syndromeABSTRACT -The aim of this study was to make a characterization of the communication in a group with fragile X syndrome (FXS), based on normal development scale. The sample has 10 boys, between 6 and 13 years and with FXS. All of them were submitted to language evaluation. The most part of them had the communication in linguistic form (80%), until 3 years old. It was considered that the data confirmed the significant delay in the acquisition and development of the communication, being necessary an early and specialized intervention.

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“…The cytogenetic test is least reliable in the detection of clinically normal male and female carriers [13]. Despite the high incidence of the disease [9,10], little is known about the frequency of the syndrome in Kuwait, though it is considered to be the second most prevalent mental retardation disorder after Down's syndrome on the worldwide level.…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic and Immunohistochemical Characterization of Fragile X Syndrome in a Kuwaiti Family: Rapid Antibody Test for the Diagnosis of Mental Retardation Patients

Alkhalaf

Verghese

Mushtaq³

2001

Med Princ Pract

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Objectives: To study a Kuwaiti family with fragile X mental retardation syndrome and present a rapid, noninvasive antibody test to be used for fragile X syndrome diagnosis on all mentally retarded patients in Kuwait. Methods: For cytogenetic analysis, the fragile site was induced by culturing blood lymphocytes in a medium containing a low concentration of folate (M199) or by adding 0.1 µM of fluorodeoxyuridine to the culture media. For the immunohistochemical test on blood smears, monoclonal antibodies against fragile X mental retardation (FMR1) gene product were used. The test is based on the presence of the protein in lymphocytes from normal individuals and its absence in lymphocytes from fragile X patients. Results: A Kuwaiti family with fragile X syndrome in 4 affected males is described. The immunohistochemical study with the monoclonal antibodies against FMR protein gave conclusive results on the same day for the affected males. Conclusion: To our knowledge, this is the first report describing a large Kuwaiti family with the fragile X syndrome. These data suggest that the immunohistochemical test used is an ideal method for the diagnosis of fragile X syndrome in mentally retarded patients in Kuwait.

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Guidelines for the Preparation and Analysis of the Fragile X Chromosome in Lymphocytes

Cited by 50 publications

References 15 publications

Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders

Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders

Características da comunicação em indivíduos com a síndrome do X frágil

Cytogenetic and Immunohistochemical Characterization of Fragile X Syndrome in a Kuwaiti Family: Rapid Antibody Test for the Diagnosis of Mental Retardation Patients

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