What does 22q11.2 deletion syndrome mean?

Definitions for 22q11.2 deletion syndrome
22q11.2 deletion syndrome

This dictionary definitions page includes all the possible meanings, example usage and translations of the word 22q11.2 deletion syndrome.

Wikipedia

  1. 22q11.2 deletion syndrome

    DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, intellectual disability and cleft palate. Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease.DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11.2. About 90% of cases occur due to a new mutation during early development, while 10% are inherited. It is autosomal dominant, meaning that only one affected chromosome is needed for the condition to occur. Diagnosis is suspected based on the symptoms and confirmed by genetic testing.Although there is no cure, treatment can improve symptoms. This often includes a multidisciplinary approach with efforts to improve the function of the potentially many organ systems involved. Long-term outcomes depend on the symptoms present and the severity of the heart and immune system problems. With treatment, life expectancy may be normal.DiGeorge syndrome occurs in about 1 in 4,000 people. The syndrome was first described in 1968 by American physician Angelo DiGeorge. In late 1981, the underlying genetics were determined.

Wikidata

  1. 22q11.2 deletion syndrome

    22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome, DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia, is a syndrome caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated 22q11.2—signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2. It has a prevalence estimated at 1:4000. The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge. 22q11 deletion is also associated with truncus arteriosus.

How to pronounce 22q11.2 deletion syndrome?

How to say 22q11.2 deletion syndrome in sign language?

Numerology

  1. Chaldean Numerology

    The numerical value of 22q11.2 deletion syndrome in Chaldean Numerology is: 3

  2. Pythagorean Numerology

    The numerical value of 22q11.2 deletion syndrome in Pythagorean Numerology is: 7

Translation

Find a translation for the 22q11.2 deletion syndrome definition in other languages:

Select another language:

  • - Select -
  • 简体中文 (Chinese - Simplified)
  • 繁體中文 (Chinese - Traditional)
  • Español (Spanish)
  • Esperanto (Esperanto)
  • 日本語 (Japanese)
  • Português (Portuguese)
  • Deutsch (German)
  • العربية (Arabic)
  • Français (French)
  • Русский (Russian)
  • ಕನ್ನಡ (Kannada)
  • 한국어 (Korean)
  • עברית (Hebrew)
  • Gaeilge (Irish)
  • Українська (Ukrainian)
  • اردو (Urdu)
  • Magyar (Hungarian)
  • मानक हिन्दी (Hindi)
  • Indonesia (Indonesian)
  • Italiano (Italian)
  • தமிழ் (Tamil)
  • Türkçe (Turkish)
  • తెలుగు (Telugu)
  • ภาษาไทย (Thai)
  • Tiếng Việt (Vietnamese)
  • Čeština (Czech)
  • Polski (Polish)
  • Bahasa Indonesia (Indonesian)
  • Românește (Romanian)
  • Nederlands (Dutch)
  • Ελληνικά (Greek)
  • Latinum (Latin)
  • Svenska (Swedish)
  • Dansk (Danish)
  • Suomi (Finnish)
  • فارسی (Persian)
  • ייִדיש (Yiddish)
  • հայերեն (Armenian)
  • Norsk (Norwegian)
  • English (English)

Word of the Day

Would you like us to send you a FREE new word definition delivered to your inbox daily?

Please enter your email address:


Citation

Use the citation below to add this definition to your bibliography:

Style:MLAChicagoAPA

"22q11.2 deletion syndrome." Definitions.net. STANDS4 LLC, 2024. Web. 28 Mar. 2024. <https://www.definitions.net/definition/22q11.2+deletion+syndrome>.

Discuss these 22q11.2 deletion syndrome definitions with the community:

0 Comments

    Are we missing a good definition for 22q11.2 deletion syndrome? Don't keep it to yourself...

    Image or illustration of

    22q11.2 deletion syndrome

    Credit »

    Free, no signup required:

    Add to Chrome

    Get instant definitions for any word that hits you anywhere on the web!

    Free, no signup required:

    Add to Firefox

    Get instant definitions for any word that hits you anywhere on the web!

    Browse Definitions.net

    Quiz

    Are you a words master?

    »
    remarkable or wonderful
    A tenebrous
    B bonzer
    C pecuniary
    D ostensive

    Nearby & related entries:

    Alternative searches for 22q11.2 deletion syndrome: