PMID- 21462133
OWN - NLM
STAT- MEDLINE
DCOM- 20110531
LR  - 20110404
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 28
IP  - 2
DP  - 2011 Apr
TI  - [Evaluation of detection and analysis of chromosome 22q11.2 microdeletion by 
      multiple ligation-dependent probe amplification assay].
PG  - 190-4
LID - 10.3760/cma.j.issn.1003-9406.2011.02.015 [doi]
AB  - OBJECTIVE: To evaluate multiplex ligation-dependent probe amplification (MLPA) 
      assay detection in analysis of chromosome 22q11.2 microdeletion. METHODS: Between 
      March 2008 and September 2009, thirty-two patients including 10 males and 16 
      females aged between years (3.6+/-3.1) were selected and evaluated by history, 
      physical examination and medical records. Of these patients, sixteen patients who 
      were previous diagnostic as 22q11.2 microdeletion were in positive control group, 
      the other 16 healthy children were in negative control group. All the patients 
      were detected by MLPA and fluorescence in situ hybridization (FISH) for the 
      presence of a 22q11.2 microdeletion after informed consent. Diagnostic efficacy 
      was assessed by sensitivity, specificity and Kappa analysis. RESULTS: We have 
      applied the two assays of detection of chromosome 22q11.2 microdeletion in 32 
      patients. Sixteen patients in positive control group were found to have a 22q11.2 
      deletion and, with the deletion size of 3-Mb. However, as expected, chromosome 
      22q11.2 deletion was not found in negative control group. The MLPA results were 
      in good agreement with that by FISH. Therefore, MLPA has high sensitivity and 
      specificity. CONCLUSION: MLPA is a rapid, reliable, high-throughput and 
      relatively economical alternative to FISH technology for the diagnosis of 22q11.2 
      microdeletion. It can provide reliable and helpful information for clinical 
      diagnosis of 22q11.2 microdeletion syndrome.
FAU - DENG, Jian-ying
AU  - DENG JY
AD  - Department of Thoracic and Cardiovascular Surgery, Children's Hospital, Zhejiang 
      University School of Medicine, Hangzhou, Zhejiang, 310003 P. R.China.
FAU - ZHANG, Ze-wei
AU  - ZHANG ZW
FAU - LI, Jian-hua
AU  - LI JH
FAU - ZHU, Yu-ning
AU  - ZHU YN
FAU - YANG, Jian-bin
AU  - YANG JB
FAU - GAO, Zhan
AU  - GAO Z
FAU - YING, Li-yang
AU  - YING LY
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
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, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Male
MH  - Nucleic Acid Amplification Techniques/*methods
MH  - Sensitivity and Specificity
EDAT- 2011/04/05 06:00
MHDA- 2011/06/01 06:00
CRDT- 2011/04/05 06:00
PHST- 2011/04/05 06:00 [entrez]
PHST- 2011/04/05 06:00 [pubmed]
PHST- 2011/06/01 06:00 [medline]
AID - 940628038 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2011.02.015 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):190-4. doi: 
      10.3760/cma.j.issn.1003-9406.2011.02.015.