Related Experiment Video
Updated: Aug 26, 2026

Generation of Genomic Deletions in Mammalian Cell Lines via CRISPR/Cas9
Published on: January 3, 2015
[Small deletion--large effect]
K Lüerssen1, M Pruggmayer, M Ptok
1Klinik und Poliklinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule Hannover.
Abstract:
Velocardiofacial syndrome (VCFS) or Shprintzen's syndrome leads to cleft palate (69%), heart defects (74%), and characteristic facial dysmorphies as well as learning difficulties (70-90%). There is phenotypic overlap with DiGeorge syndrome (DGA). In 1992, it was shown that patients with VCFS had a partial 22q11 monosomy. The site and size of the deletion in many VCFS patients do not differ from patients with DGS. For the otolaryngologist, it is important to check for cardiac defects if the characteristic middle ear effects and possibly submucosal cleft palate are present. If a combination of these exist, it is advisable to carry out a genetic examination of the child in order to determine whether VCFS is present or not. This is the only way of providing an early diagnosis of this syndrome.
Related Concept Videos
Genome Size and the Evolution of New Genes
Genome Size and the Evolution of New Genes
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Mutations
Gene Evolution - Fast or Slow?
In contrast, regions which code...
Point and Frameshift Mutations

