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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).
22q13 deletion syndrome (Phelan–McDermid syndrome) [4] is a condition caused by the deletion of the tip of the q arm on chromosome 22. Most individuals with this disorder experience cognitive delays, low muscle tone, and sleeping, eating, and behavioural issues.
Diffuse infiltrative lymphocytosis syndrome; DiGeorge syndrome; Diogenes syndrome; Diploid-triploid mosaicism; Disconnection syndrome; Distal 18q-Distal intestinal obstruction syndrome; Distal trisomy 10q; Doege–Potter syndrome; Donnai–Barrow syndrome; Donohue syndrome; DOOR syndrome; Dopamine dysregulation syndrome; Down syndrome; Dravet ...
Hearing loss with craniofacial syndromes (11 P) S. Syndromes with cleft lip and/or palate (21 P) ... DiGeorge syndrome; Donnai–Barrow syndrome; Donohue syndrome;
ICD-10 and OMIM both list it as DiGeorge syndrome which, along with the Google scholar and PubMed numbers you have given, point to DiGeorge syndrome being the accepted common name. Sarahj2107 15:55, 21 June 2018 (UTC) I based the move on the text of the article and the sources given in the article.
Emanuel syndrome is an inherited chromosome abnormality. It is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22.
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.