title: [Clinical features and molecular diagnosis of three patients with DiGeorge anomaly].
abstract: OBJECTIVE
  To investigate the clinical features and molecular diagnostic methods of three patients with DiGeorge anomaly.
  
  
  METHODS
  The clinical manifestations and immunological features of the three cases with DiGeorge anomaly were analyzed. We detected the chromosome 22q11.2 gene deletion by fluorescence in situ hybridization (FISH).
  
  
  RESULTS
  (1) CLINICAL MANIFESTATIONS: All three cases had varying degrees of infection, congenital heart disease and small thymus by imaging; two cases had significant hypocalcemia (1.11 mmol/L and 1.22 mmol/L, respectively), accompanied by convulsions; only 1 case had cleft palate and all had no significant facial deformity. (2) Immunological characteristics: All three cases had varying degrees of T-cell immune function defects (percentage of T lymphocytes was 24% - 43%, absolute count was 309 - 803/µl), and levels of immunoglobulin G, A, M, and percent of B lymphocytes and absolute count were normal. (3) Detection of the chromosome 22q11.2 gene deletion: 400 cells of each case were detected. All cells showed two green and one red hybridization signal, indicating the presence of gene deletions in chromosome 22q11.2. (4) OUTCOME: All three cases were treated with thymosin, and appropriate clinical intervention for cardiac malformations, hypocalcemia, and were followed-up for 4 - 18 months, the prognosis was good.
  
  
  CONCLUSIONS
  DiGeorge anomaly showed diverse clinical manifestations. We should consider the disease if patients had congenital heart disease, thymic hypoplasia, hypocalcemia and/or impaired immune function. FISH for detecting chromosome 22q11.2 gene deletion can be used as accurate and rapid diagnostic method. Thymosin treatment and other clinical intervention may help to improve the prognosis of patients with partial DiGeorge anomaly.
authors: Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai 201102, China.
authors: Jin-qiao
authors: JQ
authors: Sun
authors: Lai-shuan
authors: LS
authors: Wang
authors: Chun-hua
authors: CH
authors: Qi
authors: Wen-jing
authors: WJ
authors: Ying
authors: Xiao-hong
authors: XH
authors: Guo
authors: Dan-ru
authors: DR
authors: Liu
authors: Xiao-ying
authors: XY
authors: Hui
authors: Fang
authors: F
authors: Liu
authors: Yun
authors: Y
authors: Cao
authors: Fei-hong
authors: FH
authors: Luo
authors: Xiao-chuan
authors: XC
authors: Wang
mesh_terms: D002478:Cells, Cultured; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000276:immunology; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D006996:Hypocalcemia / Q000175:diagnosis / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D013601:T-Lymphocytes / Q000276:immunology; D013950:Thymus Gland / Q000276:immunology / Q000473:pathology