Port Harcourt Medical Journal

CASE REPORT
Year
: 2018  |  Volume : 12  |  Issue : 3  |  Page : 147--150

DiGeorge syndrome with microdeletion of chromosome 21


Ejiroghene Ogonor1, Wilson E Sadoh2 
1 Department of Child Health, University of Benin Teaching Hospital, Benin City, Nigeria
2 Department of Child Health, University of Benin/University of Benin Teaching Hospital, Benin City, Nigeria

Correspondence Address:
Wilson E Sadoh
Department of Child Health, University of Benin/University of Benin Teaching Hospital, PMB 1111, Benin City
Nigeria

DiGeorge syndrome consists of abnormalities of the parathyroid, thymus and the kidneys. It also includes facial dysmorphism and cardiac defects. It is caused by a microdeletion of the long arm of chromosome 22 and occasionally chromosome 10. The case of a 12-week-old female infant with low set ears, retrognathia, micrognathia, high-arched palate, right-sided aortic arch, hypocalcaemia and truncus arteriosus which are all typical of DiGeorge syndrome and an unusual microdeletion of chromosome 21 is presented.


How to cite this article:
Ogonor E, Sadoh WE. DiGeorge syndrome with microdeletion of chromosome 21.Port Harcourt Med J 2018;12:147-150


How to cite this URL:
Ogonor E, Sadoh WE. DiGeorge syndrome with microdeletion of chromosome 21. Port Harcourt Med J [serial online] 2018 [cited 2019 Aug 24 ];12:147-150
Available from: http://www.phmj.org/article.asp?issn=0795-3038;year=2018;volume=12;issue=3;spage=147;epage=150;aulast=Ogonor;type=0