PMID- 18756040
OWN - NLM
STAT- MEDLINE
DCOM- 20081007
LR  - 20211020
IS  - 1011-8934 (Print)
IS  - 1598-6357 (Electronic)
IS  - 1011-8934 (Linking)
VI  - 23
IP  - 4
DP  - 2008 Aug
TI  - Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with 
      unexplained mental retardation and anomalies using subtelomeric FISH 
      (fluorescence in situ hybridization).
PG  - 573-8
LID - 10.3346/jkms.2008.23.4.573 [doi]
AB  - Rearrangements of the subtelomeric regions of chromosomes account for a 
      significant proportion of the underlying genetic defects in both idiopathic 
      mental retardation (MR) and multiple congenital anomalies. To detect the 
      rearrangements, a set of subtelomeric fluorescence in situ hybridization (FISH) 
      probes has been developed. The aim of this study was to reveal the frequency of 
      subtelomeric rearrangements in Korean patients with MR or multiple anomalies. We 
      performed a FISH study using a commercially available subtelomeric FISH probes on 
      a series of unrelated Korean pediatric patients with MR or multiple anomalies 
      without identifiable causes. We used a checklist to evaluate the developmental 
      delay and/or MR. Patients who were shown to have chromosome abnormalities, 
      metabolic disorders, or recognizable dysmorphic syndromes by clinical and 
      laboratory findings were excluded. As a result, 100 patients were eligible for 
      the Subtelomeric FISH study, and a total of 29 patients (29%) were suspected to 
      have subtelomeric rearrangements on initial screening by the multiprobe FISH kit. 
      Among theses, confirmatory FISH studies by using single locus-specific FISH 
      probes were performed in 24 patients. One patient (a 10- yr-old girl) was 
      confirmed to have rearrangement, deletion of the telomeric portion of the short 
      arm of chromosome 4 (4p). Her clinical manifestation was compatible with 
      Wolf-Hirschhorn syndrome, which is known to be caused by 4p deletion. The 
      frequency of subtelomeric rearrangements in this study was 1.1% (1/95), lower 
      than those previously reported (0.5-16.3%). We suggest that subtelomeric FISH 
      test is a useful screening tool for patients with idiopathic MR and/or 
      dysmorphism regardless of its false positive value.
FAU - Park, Hyun-Kyung
AU  - Park HK
AD  - Department of Laboratory Medicine & Genetics, Samsung Medical Center, 
      Sungkyunkwan University School of Medicine, Seoul, Korea.
FAU - Kim, Hee-Jin
AU  - Kim HJ
FAU - Kim, Hyun-Jun
AU  - Kim HJ
FAU - Han, Sung-Hee
AU  - Han SH
FAU - Kim, Young-Jae
AU  - Kim YJ
FAU - Kim, Sun-Hee
AU  - Kim SH
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Korea (South)
TA  - J Korean Med Sci
JT  - Journal of Korean medical science
JID - 8703518
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Congenital Abnormalities/*genetics
MH  - Female
MH  - Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - *Telomere
PMC - PMC2526410
EDAT- 2008/08/30 09:00
MHDA- 2008/10/08 09:00
PMCR- 2008/08/01
CRDT- 2008/08/30 09:00
PHST- 2008/08/30 09:00 [pubmed]
PHST- 2008/10/08 09:00 [medline]
PHST- 2008/08/30 09:00 [entrez]
PHST- 2008/08/01 00:00 [pmc-release]
AID - 200808573 [pii]
AID - 10.3346/jkms.2008.23.4.573 [doi]
PST - ppublish
SO  - J Korean Med Sci. 2008 Aug;23(4):573-8. doi: 10.3346/jkms.2008.23.4.573.