Chromosome 22q11. 2 deletion syndrome (22q11. 2del) is a complex, multi-organ disorder
noted for its varying severity and penetrance among those affected. The clinical problems …

Background Chromosomal microarray (CMA) is currently the first-tier genetic test for patients
with idiopathic neuropsychiatric diseases in many countries. Its improved diagnostic yield …

Single nucleotide polymorphisms (SNPs)-based genotyping using microarray platform is
now frequently used to detect copy number variants (CNVs) in the human genome. Here, we …

Introduction The chromosome 22q11. 2 deletion syndrome comprises phenotypically similar
diseases characterized by abnormal development of the third and fourth branchial arches …

Abstract Background 22q11. 2 deletion syndrome (22q11. 2DS) is a common microdeletion
syndrome, which occurs in approximately 1: 4000 births. Familial autosomal dominant …

Background: DiGeorge-like syndrome (DGLS) is a rare genetic disorder due to the presence
of the same classical clinical manifestations of DiGeorge syndrome (DGS) without its typical …

Copy number variations (CNVs) are one of the main sources of variability in the human
genome. Many CNVs are associated with various diseases including cardiovascular …

Genetic studies have established a connection between FAT1 (FAT atypical cadherin 1)
deletion and variants and autism spectrum disorder (ASD). Here, we describe a 7‐year‐old …

Abstract Optical Genome Mapping (OGM) technology has garnered growing interest for the
identification of chromosomal structural variations (SVs), particularly complex ones that are …

Small deletions on the long arm of distal chromosome 4 do not appear to result in gross
congenital malformations, with the most frequently reported clinical findings including mild to …