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

DiGeorge syndrome with microdeletion of chromosome 21


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
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/phmj.phmj_22_17

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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.


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