Children with mosaic Down syndrome are difficult to diagnose. There is an international initiative and a pilot research study that can be used in case of clinical suspicion.
Category archives: Complementary investigations
Neuroembryopathies. CNS malformations.
Pediatric genetic syndromes.
Summaries of the most well-known pediatric syndromes.
Scales of infant development.
EpiSign.
https://episign.lhsc.on.ca/index.html
PTC Epilepsy Seq Genetic Testing Program.
https://blueprintgenetics.com/ptc-seizure-seq/
Beyond The Pediatric Epilepsy Program.
https://blueprintgenetics.com/beyondpaediatricepilepsy/
Chromosomes in the ring.
Pericentric and paracentric inversions.
Pericentric and Paracentric Inversions Chromosome inversions are structural anomalies in which a segment of the chromosome is broken and reinserted in an inverted direction (180 degrees): Pericentric Inversion: The inverted segment includes the centromere. There is a risk of giving rise to unbalanced gametes with duplications and partial deletions after meiotic crossing-over, which can…
Continue reading «Inversiones pericéntricas y paracéntricas.»
Transmissible epilepsy and development.
Beyond the ion channel.