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They include the typical common 3-Mb microduplication, 1.5-Mb nested duplication, consistent with non-allelic homologous recombination (NAHR) using distinct low-copy repeats. These microduplications likely represent the predicted reciprocal rearrangements to the microdeletions characterized in the 22q11.2 region. [ 2 ]
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 ]
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 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.
22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
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).
Dup - Duplication of a gene or genes; C – Whole chromosome extra, ... DiGeorge syndrome: 22q11.2: D 1:4,000 Distal hereditary motor neuropathies, multiple types:
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.