2 documents found, page 1 of 1
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic ...
Kucińska-Chahwan, Anna; Geremek, Maciej; Roszkowski, Tomasz; Bijok, Julia; Massalska, Diana; Ciebiera, Michał; Correia, HildebertoBackground: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions and is now increasingly used in clinical practice. Fetal phenotypes differ from postnatal and, therefore, prenatal ES interpretation requires a large amount of data deriving ...
Koolen-de Vries syndrome – National Case Series with clinical and molecular cha...
Soares, Marta P.; Rodrigues, Márcia; Dupont, Juliette; Medeira, Ana; Freixo, João; Nunes, Sofia; Cordeiro, Isabel; Travessa, André; Soares, GabrielaIntroduction: 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...