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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 ]
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).
27886 Ensembl n/a ENSMUSG00000003527 UniProt Q96DF8 O70279 RefSeq (mRNA) NM_022719 NM_001081633 NM_022408 RefSeq (protein) NP_073210 NP_001075102 NP_071853 Location (UCSC) n/a Chr 16: 17.72 – 17.73 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene. This gene is located within the minimal DGS critical region ...
DiGeorge syndrome or velocardiofacial syndrome [3] – most common microdeletion syndrome; Prader–Willi syndrome [4] [5] Angelman syndrome [4] Neurofibromatosis type I [6] Neurofibromatosis type II [7] [8] Williams syndrome [9] Miller–Dieker syndrome [10] Smith–Magenis syndrome [11] Rubinstein–Taybi syndrome [12] Wolf–Hirschhorn ...
This condition is identified when a band in the q11.2 section of the arm of chromosome 22 is missing or deleted. This condition has several different names: 22q11.2 deletion syndrome, velocardiofacial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome.
22q11.2 deletion/duplication (velocardiofacial/DiGeorge syndrome), 1q21.1 deletion/duplication, 8p23.1 deletion/duplication, 15q11.2 deletion (Burnside-Butler syndrome) Array comparative genomic hybridization (also known as chromosomal microarray analysis) Inherited protein-coding single nucleotide variant (SNV) or small insertion/deletion (indel)
The 22q11.2 mutation leads to DiGeorge or velocardiofacial syndromes. Similarly, the mutations in the TBX1 genome exhibit the same symptoms. [11] The TBX1 haploinsufficiency is responsible for many of the traits that are also seen in 22q11.2 mutations. It has 2 mutations that are similar to the two mutations of 22q11.2 - deletion and ...
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.