Background— Mutations in SCN5A are identified in ≈20% to 30% of probands affected by
Brugada syndrome (BrS). However, in familial studies, the relationship between SCN5A …

Objectives The implementation of chromosomal microarray analysis (CMA) in prenatal
testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal …

… the LightCycler in a reaction volume of 20 μl with 0.4 μmol/l of each primer, 0.06 μmol/l
anchor and detection probes, 3 mmol/l MgCl 2 and 2 μl of the Master Mix Hybridyzation Probes (…

… est récemment apparue avec l’avènement des techniques … pouvant être appliquées en
diagnostic pour l’identification et la … respectifs, nous discutons de l’impact que ces méthodes ont …

Background/Objectives: Although there is strong evidence implicating genetic factors in
congenital diaphragmatic hernia (CDH) pathogenesis, few causal genes have been identified. …

Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with
heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed …

Purpose Cytogenetic analysis provides important information for prenatal decision-making
and genetic counseling. Optical genome mapping (OGM) has demonstrated its performances …

Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders,
facial features with macrocephaly, and a progressive phenotype with hearing loss and …

… All subjects with known or detected cardiac pathology, diabetes, treated or fasting plasma
glucose (≥7.0 mmol/l), or treated or untreated high blood pressure and subjects taking …

In the interphase cell nucleus, chromosomes adopt a conserved and non-random arrangement
in subnuclear domains called chromosome territories (CTs). Whereas chromosome …