DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis

Abstract 22q11.2 deletion syndrome (22.q11.2 DS) is a genetic syndrome resulting from a microdeletion on chromosome 22. It has a diverse array of manifestations, and most cases are diagnosed early in childhood. We present the case of a 38-year-old female born in a developing country who presented to...

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Veröffentlicht in:	JCEM case reports 2024-07, Vol.2 (7), p.luae136
Hauptverfasser:	Kuenstner, William, Rapisuwon, Suthee, Shobab, Leila
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report
Online-Zugang:	Volltext
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