DiGeorge syndrome with microdeletion of chromosome 22q11.2: report of one case

J L Wang, S J Chen, M Y Chung, D M Niu, C Y Lin, B T Hwang, J H Lu

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)385-9
Number of pages5
JournalZhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui
Volume38
Issue number5
Publication statusPublished - 1997
Externally publishedYes

Keywords

  • Chromosome Deletion
  • Chromosomes, Human, Pair 22
  • DiGeorge Syndrome/genetics
  • Genotype
  • Humans
  • Infant, Newborn
  • Male

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