10 documents found, page 1 of 1

A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Prob...

The genetic complexity of neurodevelopmental disorders (NDD), combined with a heterogeneous clinical presentation, makes accurate assessment of their molecular bases and pathogenic mechanisms challenging. Our purpose is to reveal the pathogenic variant underlying a complex NDD through identification of the "full" spectrum of structural genomic and genetic variants. Therefore, clinical phenotyping and identifica...

Genomic imbalances defining novel intellectual disability associated loci

Background: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...

Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Famil...

Introduction: Intellectual disability affects 2% – 3% of the general population, with a chromosomal abnormality being found in 4% – 28% of these patients and a cryptic subtelomeric abnormality in 3% – 16%. In most cases, these subtelomeric rearrangements are submicroscopic, requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent or from a he...

Genomic imbalances defining novel intellectual disability associated loci

High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 3...

Genomic imbalances defining novel intellectual disability associated loci

Background: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...

The contribution of 7q33 copy number variations for intellectual disability

Copy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting more than just the q33 segment. We report seven patients (two families with two siblings and their affected mother and one unrelated patient) with neurodevelopmental delay associated with CNVs in 7q33 alone. All the patients presented mild to moderate int...

A NOVEL MISSENSE MUTATION IN THE ALPHATROPOMYOSIN (TPM1) GENE IN A FAMILY AFFEC...

THE CLINICAL AND NEUROCOGNITIVE FEATURES OF DIGEORGE SYNDROME PATIENTS OF CENTR...

Diagnóstico e Tratamento de Doenças Lisossomais: relatório 2011

As Doenças Lisossomais de Sobrecarga (DLS) constituem um grupo de doenças hereditárias do metabolismo que se caracterizam por uma acumulação intralisossomal quer de substratos não degradados, quer de produtos do catabolismo. Estão descritas, atualmente, cerca de 50 DLS e em Portugal a prevalência deste grupo de patologias em recém-nascidos é de 25:100.000 nados vivos. As DLS apresentam uma grande variedade de s...

Avaliação da qualidade do Centro de Diagnóstico Pré-Natal do Instituto de Genét...

RESUMO - É hoje crescente a procura do acompanhamento da gravidez e, consequentemente, do diagnóstico pré-natal, quer por motivação dos profissionais, quer dos próprios utentes. À baixa de natalidade verificada nos últimos dez anos em Portugal tem correspondido uma procura gradual e substancialmente maior das consultas de diagnóstico pré-natal, seguidas na maioria das vezes pela realização de métodos invasivos,...