PMID- 17557238
OWN - NLM
STAT- MEDLINE
DCOM- 20090323
LR  - 20070608
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 24
IP  - 3
DP  - 2007 Jun
TI  - [Study on clinical features and fluorescence in situ hybridization detections of 
      22q11 microdeletion syndrome].
PG  - 284-7
AB  - OBJECTIVE: To investigate clinical features and the diagnosis by fluorescence in 
      situ hybridization (FISH) of 22q11 microdeletion syndrome (22q11 DS). METHODS: 
      The clinical data of suspects were analyzed, and their peripheral blood samples 
      were tested by FISH for microdeletion of 22q11. The diagnosis and correlated 
      clinical factors of 22q11 DS were investigated by using the multiple factor 
      Logistic regression analysis and Chi-square test. RESULTS: In 64 suspects, 14 
      were shown to have 22q11 microdeletion with many different types of malformation, 
      and the percentage was 21.9%. The Logistic regression predictive equation for 
      22q11 DS was: y=-8.206+2.324x1+2.725x2+1.674x3, P=exp(y)/[1+exp(y)], in which the 
      concomit ant variables were facial dysmorphic features (x1), congenital heart 
      defects (x2), thymus scarcity/infection problem (x3), the P value meant the 
      probability of diagnosis of 22q11 DS. CONCLUSION: Accurate clinical evaluation is 
      just as preliminary screening to patients at risk for del22q11. The results of 
      FISH test can be predicted by using the suitable Logistic regression equation.
FAU - Qin, Yu-feng
AU  - Qin YF
AD  - Department of Child Health,Children's Hospital, Zhejiang University School of 
      Medicine, Hangzhou, Zhejiang, 310031 PR China.
FAU - Yang, Jian-bin
AU  - Yang JB
FAU - Xie, Chun-hong
AU  - Xie CH
FAU - Shao, Jie
AU  - Shao J
FAU - Zhao, Zheng-yan
AU  - Zhao ZY
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  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - DiGeorge Syndrome/*diagnosis/*genetics/pathology
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Logistic Models
MH  - Male
EDAT- 2007/06/09 09:00
MHDA- 2009/03/24 09:00
CRDT- 2007/06/09 09:00
PHST- 2007/06/09 09:00 [pubmed]
PHST- 2009/03/24 09:00 [medline]
PHST- 2007/06/09 09:00 [entrez]
AID - 940624063 [pii]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Jun;24(3):284-7.