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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).
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.
22q11 microduplication syndrome [3] is the opposite of the 22q11 deletion syndrome; in this condition, a band of q.11.2 section of chromosome 22 is duplicated. Individuals carrying this deficiency are relatively "normal", as in they do not possess any major birth defects or major medical illnesses.
Almost all patients also have other cardiac anomalies, including a ventricular septal defect (VSD), aorto-pulmonary window, and truncus arteriosus. There are three types of interrupted aortic arch, with type B being the most common. Interrupted aortic arch (especially Type B) is often associated with DiGeorge syndrome.
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 ...
According to the Mayo Clinic, DiGeorge syndrome, also known as 22q11.2 deletion syndrome, "is a condition caused when a small part of chromosome 22 is missing. This deletion causes several body ...
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 ...