22q11.2 Deletion Syndrome

Incidence and onset information

Alternative names

22q11.2 Deletion Syndrome Is also known as monosomy 22q11, digeorge sequence, sedlackova syndrome, takao syndrome, velocardiofacial syndrome, shprintzen syndrome, conotruncal anomaly face syndrome, digeorge syndrome, catch 22, cayler cardiofacial syndrome, microdeletion 22q11.2, 22q11ds.

Researches and researchers

Doctors, researchs, and experts related to 22q11.2 Deletion Syndrome extracted from public data.

22q11.2 Deletion Syndrome Experts map

Current Researchs and researchers

• LEUVEN — Pr Koenraad DEVRIENDT

  Clinical expert - Clinical geneticist - Investigator of research project
  
  

  • Institution/s:
    — Department of Human Genetics, University Hospitals Leuven - Gasthuisberg
    — Department of Human Genetics, University Hospitals Leuven - Gasthuisberg
    — Department of Pediatrics, University Hospitals Leuven - Gasthuisberg
  • Research area/topic::
    

    Pathogenesis of congenital urological and cardiological malformations.



• MONTRÉAL — Dr Loydie A JEROME-MAJEWSKA

  Investigator of research project
  
  

  • Institution/s:
    — Montreal Children's Hospital Research Institute - McGill University
    — CUSM - MUHC, Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
  • Research area/topic::
    

    The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2



• MONTPELLIER — Dr Anne MARCELLINI

  Investigator of research project
  
  

  • Institution/s:
    — Université Montpellier II
  • Research area/topic::
    

    Becoming an adult with a developmental anomaly: barriers and facilitators



• NAPOLI — Pr Antonio BALDINI

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — TIGEM - Telethon Institute of Genetics and Medicine
  • Research area/topic::
    

    Phenotypic rescue of the DiGeorge syndrome phenotype in mouse models



• NAPOLI — Dr Elizabeth ILLINGWORTH

  Investigator of research project
  
  

  • Institution/s:
    — TIGEM - Telethon Institute of Genetics and Medicine
  • Research area/topic::
    

    Identification of genes causing Schizophrenia-related behavior in a mouse model of del22q11 Syndrome



• ROMA — Pr Bruno DALLAPICCOLA

  Coordinator of expert centre - Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
  • Research area/topic::
    

    JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot

22q11.2 Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bernard Soulier syndrome Type B. By Genetics Laboratory Shodair Children's Hospital (United States). GP1BB Specificity 100 % Genes 12 %
GP1BB Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). GP1BB Specificity 100 % Genes 12 %
GP1BB Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). GP1BB Specificity 100 % Genes 12 %
GPIbß sequencing. By Genetic Services Laboratory University of Chicago (United States). GP1BB Specificity 100 % Genes 12 %
Thrombocytopenia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...) View the complete list with 23 more genes Panel complete gene list CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26, NBEAL2, SLFN14, ETV6, FLI1, FLNA, FYB1, GATA1, GATA2, GFI1B, GP1BA, GP1BB, GP9, CFH, CFHR1, HOXA11, CFI, ITGA2B, ITGB3, CD46, MPL, MYH9, PRKACG, RBM8A Close Specificity 3 % Genes 12 %
GPIbß deletion/duplication analysis. By Genetic Services Laboratory University of Chicago (United States). GP1BB Specificity 100 % Genes 12 %
Thrombocytopenia Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...) View the complete list with 23 more genes Panel complete gene list CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26, NBEAL2, SLFN14, ETV6, FLI1, FLNA, FYB1, GATA1, GATA2, GFI1B, GP1BA, GP1BB, GP9, CFH, CFHR1, HOXA11, CFI, ITGA2B, ITGB3, CD46, MPL, MYH9, PRKACG, RBM8A Close Specificity 3 % Genes 12 %
Bernard Soulier Syndrome. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). GP1BA, GP1BB, GP9 Specificity 34 % Genes 12 %

Sources and references

You can check the following sources for additional information.

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