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Apr 24, 2024 · 2 Foundation is a nonprofit organization dedicated to supporting the needs of families and individuals affected by chromosome 22q11.2 ...
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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 ...
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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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The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of ...
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We show that the phenotype of these patients with microduplications is extremely diverse, ranging from normal to behavioral abnormalities to multiple defects, ...
Disease summary: 22q11.2 deletion syndrome is a genetic defect, resulting in variable phenotypes including DiGeorge- or Shprintzen-syndrome.
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