PMID- 27771646
OWN - NLM
STAT- MEDLINE
DCOM- 20170713
LR  - 20190918
IS  - 0974-7559 (Electronic)
IS  - 0019-6061 (Linking)
VI  - 53
IP  - 9
DP  - 2016 Sep 8
TI  - Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A 
      Single-center Experience from Serbia.
PG  - 786-789
AB  - OBJECTIVE: The incidence of the 22q11.2 microdeletion among children who have at 
      least two out of five major clinical criteria for 22q11.2 deletion syndrome. 
      DESIGN: Prospective study. SETTING: University Childrens Hospital in Belgrade, 
      Serbia between 2005 and 2014. PARTICIPANTS: 57 patients with clinical 
      characteristics of 22q11.2 deletion syndrome. METHODS: Standard G-banding 
      cytogenetic analysis was performed in all children, and the 22q11.2 genomic 
      region was examined using fluorescence in situ hybridization (FISH). For patients 
      with no deletion detected by FISH, multiplex ligation-dependent probe 
      amplification (MLPA) analysis was also done in order to detect cryptic deletions 
      of this region and to analyze other genomic loci associated with phenotypes 
      resembling the syndrome. A selected group of patients diagnosed to have 22q11.2 
      microdeletion by FISH underwent MLPA testing in order to characterize the size 
      and position of deletion. OUTCOME MEASURES: The frequency of 22q11.2 
      microdeletion among children with at least two of the five major characteristics 
      of 22q11.2 deletion syndrome (heart malformations, facial dysmorphism, T-cell 
      immunodeficiency, palatal clefts and hypocalcemia/hypoparathyroidism). RESULTS: 
      Typical 22q11.2 microdeletion was detected in 42.1% of patients; heart 
      malformation were identified in all of them, facial dysmorphism in 79.2%, 
      immunological problems in 63.6%, hypocalcemia in 62.5% and cleft palate in 8.3%. 
      CONCLUSION: A higher detection rate compared to one-feature criterion is obtained 
      when at least two major features of 22q11.2 deletion syndrome are taking into 
      consideration. The criteria applied in this study could be considered by centers 
      in low-income countries.
FAU - Cuturilo, Goran
AU  - Cuturilo G
AD  - *Faculty of Medicine, University of Belgrade; Department of Medical Genetics, 
      University Childrens Hospital; Laboratory for Human Molecular Genetics, Institute 
      of Molecular Genetics and Genetic Engineering, University of Belgrade; Department 
      of Cardiology, University Childrens Hospital; and Department of Hematology, 
      University Childrens Hospital; Belgrade, Serbia. Correspondence to: Dr Goran 
      Cuturilo, University Childrens Hospital, Medical Faculty, University of Belgrade, 
      Tirsova 10, 11000 Belgrade, Serbia. udkgenetika@udk.bg.ac.rs.
FAU - Drakulic, Danijela
AU  - Drakulic D
FAU - Jovanovic, Ida
AU  - Jovanovic I
FAU - Krstic, Aleksandar
AU  - Krstic A
FAU - Djukic, Milan
AU  - Djukic M
FAU - Skoric, Dejan
AU  - Skoric D
FAU - Mijovic, Marija
AU  - Mijovic M
FAU - Stefanovic, Igor
AU  - Stefanovic I
FAU - Milivojevic, Milena
AU  - Milivojevic M
FAU - Stevanovic, Milena
AU  - Stevanovic M
LA  - eng
PT  - Journal Article
PL  - India
TA  - Indian Pediatr
JT  - Indian pediatrics
JID - 2985062R
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - DiGeorge Syndrome/*diagnosis/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Karyotype
MH  - Male
MH  - Molecular Diagnostic Techniques/*methods
MH  - Nucleic Acid Amplification Techniques
MH  - Prospective Studies
MH  - Serbia
EDAT- 2016/10/25 06:00
MHDA- 2017/07/14 06:00
CRDT- 2016/10/25 06:00
PHST- 2016/10/25 06:00 [pubmed]
PHST- 2017/07/14 06:00 [medline]
PHST- 2016/10/25 06:00 [entrez]
AID - 10.1007/s13312-016-0931-z [doi]
PST - ppublish
SO  - Indian Pediatr. 2016 Sep 8;53(9):786-789. doi: 10.1007/s13312-016-0931-z.