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- 22q11.2_distal_deletion_syndrome abstract "22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).The first published description of a person with a 22q11.2 distal deletion was in 1999. There have since been more than 50 cases reported in the medical literature worldwide. 22q11.2 distal deletion syndrome seems to occur equally often in males and females. There are reports of people who are unaffected by carrying the deletion and only discovered it after their child was diagnosed. It seems that the 22q11.2 distal deletion can be "silent" and that no-one knows how many people out there have a silent form of this syndrome.".
- 22q11.2_distal_deletion_syndrome omim "611867".
- 22q11.2_distal_deletion_syndrome wikiPageID "39219722".
- 22q11.2_distal_deletion_syndrome wikiPageRevisionID "589695593".
- 22q11.2_distal_deletion_syndrome caption "Schematic overview of the 22q11.2 deletion region".
- 22q11.2_distal_deletion_syndrome name "22".
- 22q11.2_distal_deletion_syndrome omim "611867".
- 22q11.2_distal_deletion_syndrome subject Category:Autosomal_monosomies_and_deletions.
- 22q11.2_distal_deletion_syndrome subject Category:Chromosomal_abnormalities.
- 22q11.2_distal_deletion_syndrome subject Category:Syndromes.
- 22q11.2_distal_deletion_syndrome type Disease.
- 22q11.2_distal_deletion_syndrome type Situation.
- 22q11.2_distal_deletion_syndrome comment "22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).The first published description of a person with a 22q11.2 distal deletion was in 1999. There have since been more than 50 cases reported in the medical literature worldwide.".
- 22q11.2_distal_deletion_syndrome label "22q11.2 distal deletion syndrome".
- 22q11.2_distal_deletion_syndrome sameAs m.0tkf31w.
- 22q11.2_distal_deletion_syndrome sameAs Q17080095.
- 22q11.2_distal_deletion_syndrome sameAs Q17080095.
- 22q11.2_distal_deletion_syndrome wasDerivedFrom 22q11.2_distal_deletion_syndrome?oldid=589695593.
- 22q11.2_distal_deletion_syndrome isPrimaryTopicOf 22q11.2_distal_deletion_syndrome.
- 22q11.2_distal_deletion_syndrome name "22q11.2 distal deletion syndrome".