TY - JOUR A1 - Ogonor, Ejiroghene A1 - Sadoh, Wilson T1 - DiGeorge syndrome with microdeletion of chromosome 21 Y1 - 2018/9/1 JF - Port Harcourt Medical Journal JO - Port Harcourt Med J SP - 147 EP - 150 VL - 12 IS - 3 UR - https://www.phmj.org/article.asp?issn=0795-3038;year=2018;volume=12;issue=3;spage=147;epage=150;aulast=Ogonor DO - 10.4103/phmj.phmj_22_17 N2 - 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. ER -