9 documents found, page 1 of 1

Uma Etiologia Rara de Dor Abdominal Epigástrica!

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Pons Calcifications and Striatal Necrosis in ADAR1 Aicardi‐Goutières Syndrome

Koolen-de Vries syndrome – National Case Series with clinical and molecular cha...

Introduction: Koolen-de Vries Syndrome (KdVS) is a rare genetic condition, caused by a 17q21.31 microdeletion, or a pathogenic variant in KANSL1 gene. The clinical picture includes developmental delay (DD)/intellectual disability (ID) with expressive language particularly impaired, dysmorphisms, neonatal hypotonia, and friendly behaviour. Aim: To characterize at the molecular and clinical levels all patients in...

Citogenética de Próxima Geração: Implementação e primeiros resultados em Portugal

Introdução: As alterações cromossómicas estruturais provocam doenças de severidade variável que acarretam sofrimento individual e familiar signifi cativo. Para compreensão da sua etiologia e estabelecimento de um possível prognóstico, uma adequada correlação fenótipo-genótipo é fundamental. O presente estudo faz parte do projeto intitulado àCitogenética de Próxima Geração Irrompe nos Cuidados de Saúde e Contrib...

A 1.77 Mb deletion in 3p26.3 encompassing CNTN6 and CNTN4 genes: case report

Chromosome microarray analysis is a powerful diagnostic tool and is being used as a first-line approach to detect chromosome imbalances associated with intellectual disability, dysmorphic features and congenital abnormalities. This test enables the identification of new copy number variants (CNVs) and their association with new microdeletion/microduplication syndromes in patients previously without diagnosis. W...

Early results of next-gen cytogenetics implementation in Portugal

Background: Most approaches are insensitive to the full mutational spectrum of chromosome rearrangements associated with human developmental abnormalities. Therefore, our aim is to introduce next-generation sequencing (NGS) into clinical cytogenetics, creating a sequence-based NextGen Cytogenetics to catalyze a dramatic advancement in clinical diagnostics. Methods: Twenty families with chromosome rearrangement-...

Array and NGS based characterization of translocation breakpoints of the t(2:7)...

Introduction: Congenital anomalies, namely caused by chromosome rearrangements, are a leading cause of infant mortality in European countries. The elucidation of the causal relationship between rearrangements and clinical phenotypes requires an efficient approach for identification of breakpoints at nucleotide resolution. Methods: In the last decade we went from conventional FISH based positional mapping of chr...

Next-Gen Cytogenetics and the Hidden Complexity of Genomic or Chromosomal Rearr...

Human developmental abnormalities are devastating conditions that account for almost half of all full-term neonatal deaths in developed countries. For individuals who survive, congenital anomalies often confer lifelong disability and their impact on public health is profound. However, the genetic etiology and genomic architecture contributing to the vast majority of these conditions remain unknown. Separately, ...

Exclusion of inv(2)(p16.1;q14.3) as the cause of a severe congenital disease by...

<b>Introduction:</b> Congenital anomalies, a leading cause of infant mortality in developed countries, are usually caused by genomic and/or chromosome rearrangements. Such rearrangements, like inversions, disrupt the genomic architecture at the breakpoint regions and can be either subclinical or pathogenic. Currently, the lack of a fully annotated genome hinders the prediction of phenotypical consequences of th...