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DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems , specific facial features, frequent infections, developmental disability , intellectual disability and cleft palate . [ 7 ]
Alright as a quick recap, DiGeorge syndrome or 22q11.2 deletion syndrome, is a genetic condition where the q11.2 portion of DNA on chromosome 22 is deleted, which can cause developmental issues like thymic and parathyroid hypoplasia, congenital heart defects, facial abnormalities, mental health conditions, and others.
n/a Ensembl ENSG00000183628 n/a UniProt Q14129 Q6FGH4 n/a RefSeq (mRNA) NM_005675 n/a RefSeq (protein) NP_001355171 n/a Location (UCSC) Chr 22: 18.91 – 18.91 Mb n/a PubMed search n/a Wikidata View/Edit Human Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene. DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal ...
22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).
1993: Random Kindness and Senseless Acts of Beauty, a 1993 children's book published by Volcano Press and authored by Anne Herbert, Margaret Paloma Pavel, and illustrated by Mayumi Oda, with a 20th-anniversary edition published in 2014 with a foreword by Archbishop Desmond Tutu, and a 30th-anniversary edition published in 2024, both by New Village Press.
The most frequent reported symptoms in patients with 22q11.2 duplication syndrome are intellectual disability/learning disability (97% of patients), delayed psychomotor development (67% of patients), growth retardation (63% of patients) and muscular hypotonia (43% of patients). [1]
Colin Farrell's newly launched foundation seeks to benefit people living with intellectual disability and their families 'through education, awareness, advocacy and innovative programs.'
There is a 1.5-3.0 Mb deletion containing around 30-40 genes, spanning this region that causes the most survivable genetic deletion disorder known as 22q11.2 deletion syndrome, which is most commonly known as DiGeorge syndrome or Velocaridofacial syndrome.