Genetic Mapping of the 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Microdeletion Types Revealed Novel Candidate Breakpoints

Background: 22q11.2 deletion syndrome (DiGeorge Syndrome) is a rare disorder that involves a de novo hemizygous microdeletion within the 22q11.2 chromosomal locus. Individuals affected by this condition display a wide array of clinical phenotypes as well as haplotype sequences, which render understa...

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Bibliographic Details
Published in:Genes 2026-02, Vol.17 (2), p.248
Main Authors: Papageorgiou, Louis, Nikolopoulou, Elena, Koniari, Eleni, Hatziagapiou, Kyriaki, Chaniotis, Dimitrios, Beloukas, Apostolos, Chrousos, George P., Eliopoulos, Elias, Thireou, Trias
Format: Article
Language:English
Subjects:
Breakpoints
Cardiovascular disease
Case studies
Chromosome 22
Chromosome Breakpoints
Chromosome Deletion
Chromosome Mapping - methods
Chromosomes
Chromosomes, Human, Pair 22 - genetics
Congenital diseases
DiGeorge Syndrome - genetics
DiGeorge Syndrome - pathology
Gene loci
Gene mapping
Genetic testing
Genomes
Genomic analysis
Genotypes
Haplotypes
Humans
Hypocalcemia
Minority & ethnic groups
Patients
Phenotypes
Precision medicine
Systematic Review
Thymic hypoplasia
Thymus gland
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