Report of a patient with fragile X syndrome unexpectedly identified by karyotype analysis

ABSTRACT Fragile X syndrome is considered the main known cause of inherited learning disabilities and it is characterized by mutations in the FMR1 gene. Our aim was to report an unexpected detection of a patient with fragile X syndrome by GTG-Banding karyotype analysis (G-bands after trypsin and Giemsa). The karyotype analysis identified Xq27.3 fragility in 17% of the metaphases analyzed and in 54% when using TC 199, consistent with the cytogenetic diagnosis of the syndrome. This case was the sole one to present the fra(X) tests in the high-resolution karyotype analysis in our care service, contributing to future diagnoses of patients with history of developmental delay.RESUMO A s índrome do X frágil é a principal causa conhecida de deficiência de aprendizagem herdada, caracterizada por mutações no gene FMR1. Relatamos a detecção inesperada de um paciente com síndrome do X frágil por meio de cariótipo de sangue periférico com bandamento GTG (bandamento G após tri psina e Giemsa). A análise cariotípica identificou fragilidade Xq27.3 em 17% das metáfases analisadas e em 54% quando utilizado TC 199, consistente com o diagnóstico citogenético da síndrome. Este caso foi o único a apresentar as provas de fra(X) no cariótipo de alta resolução em nosso ser viço de atendimento, contribuindo para futuros diagnóstic...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - Category: Pathology Source Type: research

Related Links:

AbstractThere are frequent studies undergoing related to the Fragile X syndrome caused due to the triplet CGG replicates on the X chromosome of Fragile X Mental Retardation 1 (FMR1) gene. Mutations of this chromosome can lead to Fragile X syndrome, rational disability, and other cognitive discrepancies. A novel approach based on Rajan Transform is proposed to analyze the spectral density of codons. The traditional transform like Fourier transform provides imaginary values whereas the Rajan Transform exhibits only the real values. The mutations there in the DNA are successfully distinguished by using the Rajan Transform whi...
Source: Journal of Medical Systems - Category: Information Technology Source Type: research
Abstract Fragile X Syndrome (FXS) is a leading genetic cause of autism and intellectual disabilities. The Fmr1 knockout (KO) mouse is a commonly studied pre-clinical model of FXS. Adult male Fmr1 KO mice produce fewer ultrasonic vocalizations (USVs) during mating, suggestive of abnormal social communication. Minocycline treatment for 2 months from birth alleviates a number of FXS phenotypes in mice, including USV call rate deficits. In the current study, we investigated if treatment initiated past the early developmental period would be effective, given that in many cases, individuals with FXS are treated during l...
Source: Behavioural Brain Research - Category: Neurology Authors: Tags: Behav Brain Res Source Type: research
Publication date: Available online 28 June 2019Source: Stem Cell ResearchAuthor(s): Subhajit Giri, Meera Purushottam, Biju Viswanath, Ravi S. MuddashettyAbstractMutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein (FMRP) which is a RNA binding protein and play important role in synaptic plasticity and translational regulation in neurons. We have generated a homozygous FMR1 knockout (FMR1-KO) hESC line using CRISPR/Cas9 based genome editing. It created a homozygous 280 nucleotid...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Abstract Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders (CND) can inform research in the biobehavioural origins and treatment of CND. The goal of this research was to use measures and analytics in a diagnostic classification system to estimate the prevalence of speech and motor speech disorders in convenience samples of speakers with one of eight types of CND. Audio-recorded conversational speech samples from 346 participants with one of eight types of CND were obtained from a database of participants recruited for genetic and behavioural studi...
Source: Clinical Linguistics and Phonetics - Category: Speech-Language Pathology Authors: Tags: Clin Linguist Phon Source Type: research
Fragile X syndrome (FXS) is the leading monogenic cause of autism and intellectual disability. FXS is caused by loss of expression of fragile X mental retardation protein (FMRP), an RNA-binding protein that regulates translation of numerous mRNA targets, some of which are present at synapses. While protein synthesis deficits have...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
Authors: Dean DD, Agarwal S, Muthuswamy S Abstract Background: Fragile X Syndrome (FXS), the most common cause of inherited intellectual disability (ID), is caused by a CGG repeat expansion (full mutation (FM),>200 CGG) at the Fragile X Mental Retardation 1 (FMR1) gene. Early identification of FXS has prognostic significance for affected individuals due to early initiation of interventions. Genetic counseling and family screening can aid parents and at-risk asymptomatic carriers (premutation (PM), 55-200 CGG) in taking proper reproductive decisions. Methodology: The present study utilizes Triplet Primed-Polymera...
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research
r C Abstract Identifying the early signs of developmental disability is important for ensuring timely diagnosis and early intervention. Day-care workers may be in a prime position to notice potential developmental deviations, but it is unclear if they can accurately recognize subtle early signs of atypical development. Sixty day-care workers examined home-videos of very young children with fragile X syndrome and typically developing children. Results indicated that most day-care workers can distinguish typical and atypical development in general and might therefore have an important role in early identification. S...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
Fragile X Syndrome (FXS) is one of the most common monogenic forms of autism and intellectual disability. Preclinical studies in animal models have highlighted the potential of pharmaceutical intervention strategies for alleviating the symptoms of FXS. However, whether treatment strategies can be tailored to developmental time windows that define the emergence of particular phenotypes is unknown. Similarly, whether a brief, early intervention can have long-lasting beneficial effects, even after treatment cessation, is also unknown. To address these questions, we first examined the developmental profile for the acquisition ...
Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Research Articles Source Type: research
King of the Spanish Habsburg dynasty and sovereign of the overseas Spanish Empire, Charles II of Spain, was physically disabled, disfigured, mentally retarded, and he proved impotent. He is known in history asEl Hechizado (the Bewitched) because both him and the people believed that his mental and physical incapacity were due to a “witchcraft act.” Although several authors speculated about different diseases, most of them genetic such as pituitary hormone deficiency, distal renal tubular acidosis, Klinefelter syndrome, fragile X syndrome, or male XX hermaphroditism, the hypothesis of hydrocephalus was not taken...
Source: European Neurology - Category: Neurology Source Type: research
Fragile X syndrome(FXS) is most common congenital hereditary disease of low intelligence after Down Syndrome. Its main pathogenic gene is Fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, autism and Fragile X-related primary ovarian insufficiency (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS). Fmr1 gene transcription leads to the absence of fragile X mental retardation protein (FMRP). How to relieve or cure disorders associated with FXS has also become a clinically disturbing problem. Previous studies have recently shown that Long noncoding RNAs (lncRNA) contribute to the ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
More News: Disability | Fragile X Syndrome | Genetics | Learning | Universities & Medical Training