PMID- 22173508
OWN - NLM
STAT- MEDLINE
DCOM- 20130603
LR  - 20211021
IS  - 1672-0733 (Print)
IS  - 1672-0733 (Linking)
VI  - 31
IP  - 6
DP  - 2011 Dec
TI  - Primed in situ labeling technique for subtelomeric rearrangements in 70 children 
      with idiopathic mental retardation.
PG  - 834-836
LID - 10.1007/s11596-011-0686-7 [doi]
AB  - Subtelomeric rearrangements contribute to idiopathic mental retardation (MR), but 
      most children with idiopathic MR do not show any chromosome abnormalities with 
      standard cytogenetic analysis. The primed in situ labeling (PRINS) technique, 
      using an oligonucleotide primer complementary to the telemetric repeat sequences 
      (TTAGGG), can identify chromosome telomeric abnormality (deletion) in idiopathic 
      MR children. In this study, seventy children with idiopathic MR were enrolled and 
      subjected to PRINS. The results showed normal karyotype in all the children, 
      subtelomeric rearrangements (1q del and 4q del) in 2 cases, which was confirmed 
      by fluorescence in situ hybridization (FISH). It was concluded that PRINS is 
      effective for the detection of subtelomeric rearrangements and may become a 
      routine technique for cytogenetical abnormality screening.
FAU - Tian, Hong
AU  - Tian H
AD  - Department of Medical Genetics, Tongji Medical College, Huazhong University of 
      Science and Technology, Wuhan, 430030, China. tianhong111@hotmail.com.
FAU - Yu, Hui
AU  - Yu H
AD  - Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430022, China.
FAU - Fu, Siqing
AU  - Fu S
AD  - Department of Medical Genetics, Tongji Medical College, Huazhong University of 
      Science and Technology, Wuhan, 430030, China.
FAU - Jin, Runming
AU  - Jin R
AD  - Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430022, China.
LA  - eng
PT  - Journal Article
DEP - 20111216
PL  - China
TA  - J Huazhong Univ Sci Technolog Med Sci
JT  - Journal of Huazhong University of Science and Technology. Medical sciences = Hua 
      zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. 
      Yixue Yingdewen ban
JID - 101169627
RN  - 0 (DNA Primers)
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - DNA Primers
MH  - Down Syndrome/genetics
MH  - Female
MH  - Gene Rearrangement/*genetics
MH  - Humans
MH  - Infant
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Male
MH  - Primed In Situ Labeling/*methods
MH  - Telomere/*genetics
EDAT- 2011/12/17 06:00
MHDA- 2013/06/05 06:00
CRDT- 2011/12/17 06:00
PHST- 2011/02/21 00:00 [received]
PHST- 2011/12/17 06:00 [entrez]
PHST- 2011/12/17 06:00 [pubmed]
PHST- 2013/06/05 06:00 [medline]
AID - 10.1007/s11596-011-0686-7 [pii]
AID - 10.1007/s11596-011-0686-7 [doi]
PST - ppublish
SO  - J Huazhong Univ Sci Technolog Med Sci. 2011 Dec;31(6):834-836. doi: 
      10.1007/s11596-011-0686-7. Epub 2011 Dec 16.