Xp21 contiguous gene deletion syndrome involves the glycerol kinase (GK) gene, adrenal hypoplasia congenital (AHC) gene and Duchenne's muscular dystrophy (DMD) gene, which are located contiguously on Xp21 chromosome. The clinical features of a patient with Xp21 contiguous gene deletion syndrome are the sum of those of each disease; psychomotor retardation and lethargy for GK deficiency, hyperpigmentation and salt wasting dehydration for AHC, and muscular weakness and hypotonia for DMD. Chromosomal microarray analysis is performed for confirmation of Xp21 contiguous gene deletion syndrome. The goal of treatment is to control each of the diseases. We experienced and reported on a neonatal case of Xp21 contiguous gene deletion syndrome of AHC, GK deficiency, and DMD.

• 박상기(조선대학교 의학전문대학원 소아청소년과학교실) | Sang Kee Park Corresponding author
• 김은영(조선대학교 의학전문대학원 소아청소년과학교실) | Eun Young Kim
• 최민선(조선대학교 의학전문대학원 소아청소년과학교실) | Min Sun Choi
• 주민아(조선대학교 의학전문대학원 소아청소년과학교실) | Min A Joo