PMID- 22161111
OWN - NLM
STAT- MEDLINE
DCOM- 20120412
LR  - 20111214
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 28
IP  - 6
DP  - 2011 Dec
TI  - [Chromosome 22q11.2 microdeletion and phenotype analysis of patients with 
      non-syndromic tetralogy of Fallot].
PG  - 708-11
LID - 10.3760/cma.j.issn.1003-9406.2011.06.025 [doi]
AB  - OBJECTIVE: To investigate the frequency and clinical phenotypes of 22q11.2 
      microdeletion in patients with non-syndromic tetralogy of Fallot (TOF). METHODS: 
      Six-eight non-syndromic TOF patients (38 males and 30 females, aged 0-11 years) 
      were selected and evaluated by history, physical examination and review of 
      medical records. After informed consent was obtained, peripheral blood was drawn 
      for genomic DNA extraction. Chromosome 22q11.2 microdeletion was screened by 
      multiplex ligation-dependent probe amplification (MLPA). Suspected cases were 
      confirmed with fluorescence in situ hybridization (FISH). Data was analyzed with 
      SPSS 11.5 software. Phenotype-genotype correlations were assessed using Fisher's 
      exact test. P values less than 0.05 on a 2-sided test were considered to be 
      significant. RESULTS: Six-eight non-syndromic TOF children were screened for a 
      22q11.2 deletion, among which 59 (86.8%) presented pulmonary stenosis (PS) and 9 
      (13.2%) presented pulmonary atresia (PA). Seven patients (10.3%) were found to 
      have carried a deletion. Among these, four had TOF-PS, three had TOF-PA. The 
      frequency of 22q11.2 deletion in patients with TOF-PA (3/9, 33.3%) is much higher 
      than that of TOF-PS (4/59, 6.80%) (P< 0.05). CONCLUSION: 22q11.2 microdeletion is 
      present in approximately 10.3% of patients with non-syndromic TOF. The deletion 
      tends to have a higher prevalence in patients with TOF-PA. 22q11.2 deletion 
      should be screened in non-syndromic TOF children and genetic counselling may be 
      provided.
FAU - Zhang, Ze-wei
AU  - Zhang ZW
AD  - Department of Thoracic and Cardiovascular Surgery, Zhejiang University School of 
      Medicine, Hangzhou, Zhejiang, People's Republic of China. zeweiz@zju.edu.cn
FAU - Deng, Jian-ying
AU  - Deng JY
FAU - Ying, Li-yang
AU  - Ying LY
FAU - Gao, Zhan
AU  - Gao Z
FAU - Jin, Jie
AU  - Jin J
FAU - Qi, Jian-chuan
AU  - Qi JC
FAU - Tan, Zheng
AU  - Tan Z
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Female
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Nucleic Acid Amplification Techniques
MH  - *Phenotype
MH  - Tetralogy of Fallot/diagnosis/*genetics
EDAT- 2011/12/14 06:00
MHDA- 2012/04/13 06:00
CRDT- 2011/12/14 06:00
PHST- 2011/12/14 06:00 [entrez]
PHST- 2011/12/14 06:00 [pubmed]
PHST- 2012/04/13 06:00 [medline]
AID - 940628144 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2011.06.025 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):708-11. doi: 
      10.3760/cma.j.issn.1003-9406.2011.06.025.