PMID- 9401184
OWN - NLM
STAT- MEDLINE
DCOM- 19971231
LR  - 20150901
IS  - 0001-6578 (Print)
IS  - 0001-6578 (Linking)
VI  - 38
IP  - 5
DP  - 1997 Sep-Oct
TI  - DiGeorge syndrome with microdeletion of chromosome 22q11.2: report of one case.
PG  - 385-9
AB  - DiGeorge syndrome (DGS) is a congenital anomaly involving developmental defects 
      of the third and fourth pharyngeal pouches. Thymic aplasia or hypoplasia, 
      parathyroid aplasia or hypoplasia, cardiac malformations, and dysmorphic facies 
      are characteristics features. We present a case which had thymic aplasia, 
      hypocalcemia, facial dysmorphism (hypertelorism, low set ears, cleft of soft 
      palate, fish-like mouth and micrognathia) and congenital heart disease 
      (ventricular septal defect, perimembranous type). The T-cell immunologic 
      functions as a percentage of T-cell and phytohemagglutinin stimulation test were 
      within normal range matched with age. Molecular study showed microdeletion of 
      chromosome 22q11.2 by genotype analysis, but chromosome study of high-resolution 
      cytogenetic analysis by G-banding technique was normal. To our knowledge, about 
      90% of DiGeorge syndrome patients show chromosome abnormalities, most involving 
      chromosome 22 (monosomy of 22q11.2). In the past, most cases were proven by 
      high-resolution cytogenetic analysis or fluorescence in situ hybridization(FISH). 
      We report a case of DGS in Taiwan with microdeletion of chromosome 22q11.2 
      detected by genotype analysis.
FAU - Wang, J L
AU  - Wang JL
AD  - Department of Pediatrics, Veterans General Hospital--Taipei, Taiwan, R.O.C.
FAU - Chen, S J
AU  - Chen SJ
FAU - Chung, M Y
AU  - Chung MY
FAU - Niu, D M
AU  - Niu DM
FAU - Lin, C Y
AU  - Lin CY
FAU - Hwang, B T
AU  - Hwang BT
FAU - Lu, J H
AU  - Lu JH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
JT  - Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er 
      ke yi xue hui
JID - 16210470R
SB  - IM
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - DiGeorge Syndrome/*genetics
MH  - Genotype
MH  - Humans
MH  - Infant, Newborn
MH  - Male
EDAT- 1997/12/24 00:00
MHDA- 1997/12/24 00:01
CRDT- 1997/12/24 00:00
PHST- 1997/12/24 00:00 [pubmed]
PHST- 1997/12/24 00:01 [medline]
PHST- 1997/12/24 00:00 [entrez]
PST - ppublish
SO  - Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1997 Sep-Oct;38(5):385-9.