PMID- 27822388
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220318
IS  - 2090-3154 (Print)
IS  - 2090-3162 (Electronic)
IS  - 2090-3162 (Linking)
VI  - 2016
DP  - 2016
TI  - Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual 
      Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 
      Cases with Intellectual Disabilities.
PG  - 9153740
LID - 9153740
AB  - We utilized fluorescence in situ hybridization (FISH) to screen for subtelomeric 
      rearrangements in 82 Thai patients with unexplained intellectual disability (ID) 
      and detected subtelomeric rearrangements in 5 patients. Here, we reported on a 
      patient with der(20)t(X;20)(p22.3;q13.3) and a patient with 
      der(3)t(X;3)(p22.3;p26.3). These rearrangements have never been described 
      elsewhere. We also reported on a patient with der(10)t(7;10)(p22.3;q26.3), of 
      which the same rearrangement had been reported in one literature. Well-recognized 
      syndromes were detected in two separated patients, including 4p deletion syndrome 
      and 1p36 deletion syndrome. All patients with subtelomeric rearrangements had 
      both ID and multiple congenital anomalies (MCA) and/or dysmorphic features (DF), 
      except the one with der(20)t(X;20), who had ID alone. By using FISH, the 
      detection rate of subtelomeric rearrangements in patients with both ID and MCA/DF 
      was 8.5%, compared to 2.9% of patients with only ID. Literature review found 28 
      studies on the detection of subtelomeric rearrangements by FISH in patients with 
      ID. Combining data from these studies and our study, 15,591 patients were 
      examined and 473 patients with subtelomeric rearrangements were determined. The 
      frequency of subtelomeric rearrangements detected by FISH in patients with ID was 
      3%. Terminal deletions were found in 47.7%, while unbalanced derivative 
      chromosomes were found in 47.9% of the rearrangements.
FAU - Charalsawadi, Chariyawan
AU  - Charalsawadi C
AUID- ORCID: 0000-0002-3841-3818
AD  - Department of Pathology, Faculty of Medicine, Prince of Songkla University, 
      Songkhla 90110, Thailand.
FAU - Khayman, Jariya
AU  - Khayman J
AD  - Department of Pathology, Faculty of Medicine, Prince of Songkla University, 
      Songkhla 90110, Thailand.
FAU - Praphanphoj, Verayuth
AU  - Praphanphoj V
AD  - Medical Genetics Center, Bangkok 10220, Thailand.
FAU - Limprasert, Pornprot
AU  - Limprasert P
AUID- ORCID: 0000-0001-5022-5361
AD  - Department of Pathology, Faculty of Medicine, Prince of Songkla University, 
      Songkhla 90110, Thailand.
LA  - eng
PT  - Journal Article
DEP - 20161016
PL  - Egypt
TA  - Genet Res Int
JT  - Genetics research international
JID - 101571472
PMC - PMC5086359
EDAT- 2016/11/09 06:00
MHDA- 2016/11/09 06:01
PMCR- 2016/10/16
CRDT- 2016/11/09 06:00
PHST- 2016/05/11 00:00 [received]
PHST- 2016/08/08 00:00 [revised]
PHST- 2016/08/09 00:00 [accepted]
PHST- 2016/11/09 06:00 [entrez]
PHST- 2016/11/09 06:00 [pubmed]
PHST- 2016/11/09 06:01 [medline]
PHST- 2016/10/16 00:00 [pmc-release]
AID - 10.1155/2016/9153740 [doi]
PST - ppublish
SO  - Genet Res Int. 2016;2016:9153740. doi: 10.1155/2016/9153740. Epub 2016 Oct 16.