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22q11.22

A chromosome band present on 22q
National Institutes of Health

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22qChromosomesIGLC1 wt AllelePRAME wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity…
BackgroundAndrogen insensitivity syndrome (AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of… 
2016
2016
Microdélétions et duplications 22q11.22 distales
2015
2015
Two cases of concurrent development of essential thrombocythemia with chronic lymphocytic leukemia, one related to clonal B-cell lymphocytosis, tested by array comparative genomic hybridization
We present two cases of concurrent development of essential thrombocythemia (ET) with chronic lymphocytic leukemia (CLL) and one… 
2012
2012
IKZF1 and 22q11.22 Deletions and PDGFRA Gains Are Associated with Poor Outcome in Down Syndrome Acute Lymphoblastic Leukemia
Abstract 289 Children with Down syndrome (DS) have an increased risk of developing acute lymphoblastic leukemia (ALL), and… 
2012
2012
Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology
Abstract In a screen of patients by fluorescence in-situ hybridization and array comparative genomic hybridization in the past… 
2011
2011
Focal 22q11.22 Loss Combined with IKZF1 Alterations Predict Very Poor Outcome in Childhood Acute Lymphoblastic Leukemia
Abstract 741 Identifying prognostic biomarkers in childhood acute lymphoblastic leukemia (ALL) is imperative for risk… 
Highly Cited
2006
Highly Cited
2006
Chromosomal Translocations Fusing the BCL6 Gene to Different Partner Loci Are Recurrent in Primary Central Nervous System Lymphoma and May Be Associated With Aberrant Somatic Hypermutation or…
Abstract Primary central nervous system lymphomas (PCNSLs) are diffuse large B cell lymphomas confined to the brain. Only minimal… 
Review
2005
Review
2005
A PRACTICAL APPROACH TO ANTIBODY DEFICIENCY SYNDROMES
Antibody deficiency diseases are common collectively. The clinical presentation of these disorders is extremely variable and they… 
1997
1997
CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects.
DiGeorge anomaly (DGA) and velocardiofacial syndrome (VCFS) are frequently associated with monosomy of chromosomal subband 22q11… 
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