About: 22q11.2 distal deletion syndrome

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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).

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalMonosomiesAndDeletions yago:WikicatChromosomalAbnormalities yago:Aberrance114503665 yago:Abnormality114501726 yago:Abstraction100002137 yago:Attribute100024264 yago:ChromosomalAberration114504103 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Monosomy114504405 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	22q11.2 distal deletion syndrome (en)
rdfs: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). (en)
foaf:name	22q11.2 distal deletion syndrome (en)
name	22 (xsd:integer)
foaf:depiction
dcterms:subject	Autosomal monosomies and deletions Chromosomal abnormalities Genetic anomalies
Wikipage page ID	39219722 (xsd:integer)
Wikipage revision ID	1098658107 (xsd:integer)
Link from a Wikipage to another Wikipage	Mutation MAPK1 Autosomal monosomies and deletions Chromosomal abnormalities Genetic anomalies Chromosome 22 Premature birth DiGeorge syndrome 22q11.2 deletion syndrome CRKL SMARCB1 Velocardiofacial syndrome Rhabdoid tumor IUGR
sameAs	22q11.2 distal deletion syndrome 22q11.2 distal deletion syndrome 22q11.2 distal deletion syndrome 22q11.2 distal deletion syndrome 22q11.2 distal deletion syndrome 22q11.2 distal deletion syndrome 22q11.2 distal deletion syndrome
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Chromosomal_abnormalities
thumbnail	wiki-commons:Special:FilePath/22q11.2_deletion_region_schematic.jpg?width=300
OMIM	611867 (xsd:integer)
caption	Schematic overview of the 22q11.2 deletion region (en)
synonyms	Distal del (en)
has 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 hundreds of cases reported 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 it is unknown how many people may have a silent form of this syndrome. (en)
gold:hypernym	Condition
prov:wasDerivedFrom	wikipedia-en:22q11.2_distal_deletion_syndrome?oldid=1098658107&ns=0
page length (characters) of wiki page	7811 (xsd:nonNegativeInteger)
OMIM id	611867 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:22q11.2_distal_deletion_syndrome
is Link from a Wikipage to another Wikipage of	Aneuploidy Chromosome 22 List of syndromes Right-sided aortic arch 22q 11.2 Distal Deletion
is Wikipage redirect of	22q 11.2 Distal Deletion
is foaf:primaryTopic of	wikipedia-en:22q11.2_distal_deletion_syndrome

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