A Case of Partial DiGeorge Syndrome.

Han,  Myoung Hee; Moon,  Sung Su; Cho,  Soo Chul; Lee,  Dae Yeol

Ann Pediatr Endocrinol Metab > Volume 2(1); 1997 > Article

Case Report

Journal of Korean Society of Pediatric Endocrinology 1997;2(1): 139-144.

A Case of Partial DiGeorge Syndrome.

Myoung Hee Han, Sung Su Moon, Soo Chul Cho, Dae Yeol Lee

Abstract

DiGeorge syndrome, a developmental defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformation. This syndrome is usually associated with deletion of long arm in chromosome 22 (22q11-). We experienced a case of partial DiGeorge syndrome in a 2-month-old male who had hospitalized because of recurrent hypocalcemic tetany and tetralogy of Fallot. Immunologic studies revealed the decreased percentage of T lymphocyte and increased percentage of B lymphocyte. Chromosomal study with high resolution banding, showed 46, XY, 22q13 deletion. We report a case of partial Digeorge syndrome with a brief review of literatures.

Keywords: DiGeorge Syndrome;Tetany;TOF;23q13 deletion