22q11.2 deletion syndrome overview: Difference between revisions
Ayushijain (talk | contribs) No edit summary |
Ayushijain (talk | contribs) (overview) |
||
| Line 14: | Line 14: | ||
'''22q11.2 deletion syndrome''' is a disorder caused by the deletion of a small piece of [[chromosome 22 (human)|chromosome 22]]. The deletion occurs near the middle of the [[chromosome]] at a location designated q11.2. | '''22q11.2 deletion syndrome''' is a disorder caused by the deletion of a small piece of [[chromosome 22 (human)|chromosome 22]]. The deletion occurs near the middle of the [[chromosome]] at a location designated q11.2. | ||
DiGeorge Syndrome (DGS) is a combination of signs and symptoms caused by defects in the development of structures derived from the pharyngeal arches during embryogenesis. | DiGeorge Syndrome (DGS) is a combination of signs and symptoms caused by defects in the development of structures derived from the pharyngeal arches during embryogenesis. | ||
It comprises of [[thymic hypoplasia]], [[hypocalcaemia,]] outflow tract defects of the heart, and dysmorphic facies. | |||
==Historical Perspective== | ==Historical Perspective== | ||
Revision as of 19:33, 10 July 2020
| https://https://www.youtube.com/watch?v=YdDs92gaWl8%7C350}} |
|
22q11.2 deletion syndrome Microchapters |
|
Differentiating 22q11.2 deletion syndrome from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
22q11.2 deletion syndrome overview On the Web |
|
American Roentgen Ray Society Images of 22q11.2 deletion syndrome overview |
|
Risk calculators and risk factors for 22q11.2 deletion syndrome overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2] Ayushi Jain, M.B.B.S[3]
Overview
22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. DiGeorge Syndrome (DGS) is a combination of signs and symptoms caused by defects in the development of structures derived from the pharyngeal arches during embryogenesis.
It comprises of thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies.