Article
DiGeorge syndrome with microdeletion of chromosome 22q11.2: report of one case.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui - 1 Jan 2000
Wang J L, Chen S J, Chung M Y, Niu D M, Lin C Y, Hwang B T, Lu J H
Abstract excerpt
DiGeorge syndrome (DGS) is a congenital anomaly involving developmental defects of the third and fourth pharyngeal pouches. Thymic aplasia or hypoplasia, parathyroid aplasia or hypoplasia, cardiac malformations, and dysmorphic facies are characteristics features. We present a case which had thymi...
Topics
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- DiGeorge Syndrome
- Genotype
- Humans
- Infant, Newborn
- Male