Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …

Abstract 22q11. 2 Deletion syndrome (22q11. 2DS) is the most common microdeletion
syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this …

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

In this narrative review we focus on acute symptomatic seizures occurring in subjects with
electrolyte disturbances. Quite surprisingly, despite its clinical relevance, this issue has …

Background Historically, prenatal screening has focused primarily on the detection of fetal
aneuploidies. Cell-free DNA now enables noninvasive screening for subchromosomal copy …

Summary Chromosome 22q11. 2 deletion syndrome is the most common microdeletion
syndrome in humans. The effects are protean and highly variable, making a unified …

Objective A novel algorithm to identify fetal microdeletion events in maternal plasma has
been developed and used in clinical laboratory‐based noninvasive prenatal testing. We …

The 22q11. 2 deletion syndrome is a multisystemic disorder characterized by a marked
variability of phenotypic features, making the diagnosis challenging for clinicians. The wide …

Objectives To evaluate the performance of a single‐nucleotide polymorphism (SNP)‐based
non‐invasive prenatal test (NIPT) for the detection of fetal 22q11. 2 deletion syndrome in …

We are using induced pluripotent stem cell (iPSC) technology to study neuropsychiatric
disorders associated with 22q11. 2 microdeletions (del), the most common known …