DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can ...
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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.
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Jun 11, 2024 · The International 22q11.2 Foundation is a nonprofit organization dedicated to supporting the needs of families and individuals affected by ...
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May 9, 2024 · The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal ...
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2 Deletion syndrome or 22q (also referred to as Velocardiofacialsyndrome (VCFS), and/or DiGeorge syndrome) is a disorder caused by a small missing piece of the ...
22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long ...
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May 6, 2019 · 2 deletion syndrome (22q11.2DS) is caused by recurrent, chromosome specific, low copy repeat mediated copy number losses of chromosome 22q11.
DiGeorge syndrome (22q11.2 deletion syndrome) - Symptoms and causes
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Jan 13, 2024 · This condition is due to missing part of chromosome 22. It may cause heart issues, thyroid problems, cleft palate, lower immunity and other ...
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