title: DiGeorge syndrome with microdeletion of chromosome 22q11.2: report of one case.
abstract: 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 thymic aplasia, hypocalcemia, facial dysmorphism (hypertelorism, low set ears, cleft of soft palate, fish-like mouth and micrognathia) and congenital heart disease (ventricular septal defect, perimembranous type). The T-cell immunologic functions as a percentage of T-cell and phytohemagglutinin stimulation test were within normal range matched with age. Molecular study showed microdeletion of chromosome 22q11.2 by genotype analysis, but chromosome study of high-resolution cytogenetic analysis by G-banding technique was normal. To our knowledge, about 90% of DiGeorge syndrome patients show chromosome abnormalities, most involving chromosome 22 (monosomy of 22q11.2). In the past, most cases were proven by high-resolution cytogenetic analysis or fluorescence in situ hybridization(FISH). We report a case of DGS in Taiwan with microdeletion of chromosome 22q11.2 detected by genotype analysis.
authors.affiliation: Department of Pediatrics, Veterans General Hospital--Taipei, Taiwan, R.O.C.
authors.forename: J L
authors.initials: JL
authors.lastname: Wang
authors.forename: S J
authors.initials: SJ
authors.lastname: Chen
authors.forename: M Y
authors.initials: MY
authors.lastname: Chung
authors.forename: D M
authors.initials: DM
authors.lastname: Niu
authors.forename: C Y
authors.initials: CY
authors.lastname: Lin
authors.forename: B T
authors.initials: BT
authors.lastname: Hwang
authors.forename: J H
authors.initials: JH
authors.lastname: Lu
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male