104 documents found, page 1 of 11

A Family with Subclinical Charcot-Marie-Tooth Disease Associated with a Mutatio...

Charcot-Marie-Tooth (CMT) disease is an inherited neuropathy characterized by progressive motor and sensory impairment. Mutations in the myelin protein zero (MPZ) gene are the second most common cause of CMT and are often associated with severe clinical presentations. We describe the case of a 31-year-old woman who had an incidental diagnosis of an intermediate neuropathy on nerve conduction studies, without an...

Diagnóstico pré-natal: história, impacto e perspetivas futuras

Avaliação externa da qualidade do diagnóstico pré-natal de anomalias cromossómi...

Report of a rare 3q29 interstitial microdeletion: prenatal diagnosis and postna...

Distal interstitial deletions in the 3q29 region are rare. The characterization of new prenatal diagnosis (PND) cases and their follow-up may add knowledge about the affected region.

Sudden infant death in a neonate with X-linked intellectual disability type Nas...

Introduction: X-linked intellectual disability (XLID) type Nascimento is a rare genetic syndrome characterized by intellectual disability, craniofacial dysmorphisms, and congenital anomalies, including cardiac and urinary tract defects. It is caused by variants of the UBE2A gene. Methods: Description of a clinical case based on medical records; genetic testing through chromosomal microarray analysis. Literature...

Resultados da Implementação da Orientação Técnica da DGS, Nº01/2024, sobre Pesq...

Introdução: O rastreio pré-natal não invasivo (NIPS), baseado na análise de DNA fetal livre circulante no sangue materno, tem vindo a afirmar-se como o método mais sensível e específico para detetar as principais aneuploidias fetais (trissomia 21, 18 e 13). A 1 de março de 2024, a Direção-Geral da Saúde (DGS) publicou a Orientação Técnica n.º 01/2024, definindo o modelo de rastreio contingente no Serviço Nacion...

Multiple non-contiguous interstitial deletions in 5q21q22.1, including the CHD1...

Intellectual disability (ID), developmental delay (DD), and behavioural disorders are complex neurodevelopmental conditions associated with multifactorial etiologies, including genetic factors. Chromosomal microarray analysis (CMA) is a valuable tool in identifying copy number variations (CNVs) contributing to neurodevelopmental disorders. Here we report a 4-year-old male with DD, severe language impairment, be...

Loss of function of PCDH11X gene in the pathogenesis of neurodevelopmental diso...

Introduction: The PCDH11X gene, predominantly expressed in the brain, plays an important role in cell–cell communication, dendritic synaptic plasticity, cerebral lateralization, and verbal ability. Although it is not currently classified as a morbid gene, loss-of-function (LoF) variants in PCDH11X have been reported in the literature as having a moderate association whit autism spectrum disorder (ASD). These va...

Genetic Analysis of Early and Recurrent Pregnancy Loss: Challenges and Advances

Pregnancy loss is defined as the spontaneous termination of a pregnancy before fetal viability and affects approximately one in four pregnancies. Genetic analysis of early or recurrent fetal losses is crucial for elucidating the underlying causes of miscarriage, thereby guiding clinical management and providing prognostic information to affected couples. Genetic anomalies, particularly chromosomal abnormalities...

Comparative analysis of hybrid‑SNP microarray and nanopore sequencing for detec...

Background: Nanopore sequencing is a technology that holds great promise for identifying all types of human genome variations, particularly structural variations. In this work, we used nanopore sequencing technology to sequence 2 human cell lines at low depth of coverage to call copy number variations (CNV), and compared the results variant by variant with chromosomal microarray (CMA) results. Results: We analy...