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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 ]
The following is a list of notable month-long observances, recurrent months that are used by various governments, groups and organizations to raise awareness of an issue, commemorate a group or event, or celebrate something.
The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans. [5] [6] [7]Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22.
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.
"It's a deletion, a little piece of one of the 11th chromosomes missing. ... [In] my first month of training in cardiology, I was taking care of a child because of his heart defects, and he ...
Angelo Mario DiGeorge [1] (April 15, 1921 – October 11, 2009) was an American physician and pediatric endocrinologist from Philadelphia who pioneered the research on the autosomal dominant immunodeficiency now commonly referred to as DiGeorge syndrome.
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 ...
54487 94223 Ensembl ENSG00000128191 ENSMUSG00000022718 UniProt Q8WYQ5 Q9EQM6 RefSeq (mRNA) NM_001190326 NM_022720 NM_033324 RefSeq (protein) NP_001177255 NP_073557 NP_201581 Location (UCSC) Chr 22: 20.08 – 20.11 Mb n/a PubMed search Wikidata View/Edit Human View/Edit Mouse The microprocessor complex subunit DGCR8 (DiGeorge syndrome critical region 8) is a protein that in humans is encoded by ...