22q11.2 Deletion Syndrome

Description

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Clinical Features

Top most frequent phenotypes and symptoms related to 22q11.2 Deletion Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia

And another 121 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available 22Q11.2 DELETION SYNDROME have a estimated birth prevalence of 37.5 per 100k in Europe.
No data available about the known clinical features onset.

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



Mendelian

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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
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
Specificity
3 %
Genes
12 %
Bernard Soulier Syndrome.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

GP1BA, GP1BB, GP9
Specificity
34 %
Genes
12 %

We have 112 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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