PMID- 23324155
OWN - NLM
STAT- MEDLINE
DCOM- 20131029
LR  - 20160607
IS  - 0578-1310 (Print)
IS  - 0578-1310 (Linking)
VI  - 50
IP  - 12
DP  - 2012 Dec
TI  - [Clinical features and molecular diagnosis of three patients with DiGeorge 
      anomaly].
PG  - 944-7
AB  - OBJECTIVE: To investigate the clinical features and molecular diagnostic methods 
      of three patients with DiGeorge anomaly. METHOD: 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). RESULT: (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/microl), 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. CONCLUSION: 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.
FAU - Sun, Jin-qiao
AU  - Sun JQ
AD  - Department of Clinical Immunology, Children's Hospital of Fudan University, 
      Shanghai 201102, China.
FAU - Wang, Lai-shuan
AU  - Wang LS
FAU - Qi, Chun-hua
AU  - Qi CH
FAU - Ying, Wen-jing
AU  - Ying WJ
FAU - Guo, Xiao-hong
AU  - Guo XH
FAU - Liu, Dan-ru
AU  - Liu DR
FAU - Hui, Xiao-ying
AU  - Hui XY
FAU - Liu, Fang
AU  - Liu F
FAU - Cao, Yun
AU  - Cao Y
FAU - Luo, Fei-hong
AU  - Luo FH
FAU - Wang, Xiao-chuan
AU  - Wang XC
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Er Ke Za Zhi
JT  - Zhonghua er ke za zhi = Chinese journal of pediatrics
JID - 0417427
SB  - IM
MH  - Cells, Cultured
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - DiGeorge Syndrome/*diagnosis/*genetics/immunology
MH  - Female
MH  - Heart Defects, Congenital/diagnosis/genetics
MH  - Humans
MH  - Hypocalcemia/diagnosis/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - T-Lymphocytes/immunology
MH  - Thymus Gland/immunology/pathology
EDAT- 2013/01/18 06:00
MHDA- 2013/10/30 06:00
CRDT- 2013/01/18 06:00
PHST- 2013/01/18 06:00 [entrez]
PHST- 2013/01/18 06:00 [pubmed]
PHST- 2013/10/30 06:00 [medline]
PST - ppublish
SO  - Zhonghua Er Ke Za Zhi. 2012 Dec;50(12):944-7.