Definitions for digeorge syndrome
di·ge·orge syn·drome

WiktionaryRate this definition:0.0 / 0 votes

1. DiGeorge syndromenoun

   A syndrome caused by the deletion of a small piece of chromosome 22 in humans, associated with various birth defects.

2. Etymology: After pediatric endocrinologist Angelo DiGeorge, who described the syndrome in 1968.

WikipediaRate this definition:0.0 / 0 votes

1. DiGeorge 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.

WikidataRate this definition:0.0 / 0 votes

1. DiGeorge 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. The inheritance pattern is autosomal dominant and 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.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. DiGeorge Syndrome

   Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency and HYPOCALCEMIA. Other features include defects in the outflow tract of the HEART and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 22q11.2 or mutation in the TBX1 gene.

How to pronounce digeorge syndrome?

1. Alex

   US English

   David

   US English

   Mark

   US English

   Daniel

   British

   Libby

   British

   Mia

   British

   Karen

   Australian

   Hayley

   Australian

   Natasha

   Australian

   Veena

   Indian

   Priya

   Indian

   Neerja

   Indian

   Zira

   US English

   Oliver

   British

   Wendy

   British

   Fred

   US English

   Tessa

   South African

How to say digeorge syndrome in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of digeorge syndrome in Chaldean Numerology is: 7

2. Pythagorean Numerology

   The numerical value of digeorge syndrome in Pythagorean Numerology is: 3

References

1. ^ Wiktionary
   https://en.wiktionary.org/wiki/Digeorge_Syndrome
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Digeorge_Syndrome
3. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=digeorge syndrome