PMID- 27934799
OWN - NLM
STAT- MEDLINE
DCOM- 20170612
LR  - 20220318
IS  - 0971-5916 (Print)
IS  - 0971-5916 (Linking)
VI  - 144
IP  - 2
DP  - 2016 Aug
TI  - Subtelomeric rearrangements in Indian children with idiopathic intellectual 
      disability/developmental delay: Frequency estimation & clinical correlation using 
      fluorescence in situ hybridization (FISH).
PG  - 206-214
LID - 10.4103/0971-5916.195031 [doi]
AB  - BACKGROUND & OBJECTIVES: Subtelomeres are prone to deleterious rearrangements 
      owing to their proximity to unique sequences on the one end and telomeric 
      repetitive sequences, which increase their tendency to recombine, on the other 
      end. These subtelomeric rearrangements resulting in segmental aneusomy are 
      reported to contribute to the aetiology of idiopathic intellectual 
      disability/developmental delay (ID/DD). We undertook this study to estimate the 
      frequency of subtelomeric rearrangements in children with ID/DD. METHODS: One 
      hundred and twenty seven children with idiopathic ID/DD were tested for 
      subtelomeric rearrangements using karyotyping and FISH. Blood samples were 
      cultured, harvested, fixed and GTG-banded using the standard protocols. RESULTS: 
      Rearrangements involving the subtelomeres were observed in 7.8 per cent of the 
      tested samples. Detection of rearrangements visible at the resolution of the 
      karyotype constituted 2.3 per cent, while those rearrangements detected only with 
      FISH constituted 5.5 per cent. Five deletions and five unbalanced translocations 
      were detected. Analysis of parental samples wherever possible was informative 
      regarding the inheritance of the rearrangement. INTERPRETATION & CONCLUSIONS: The 
      frequency of subtelomeric rearrangements observed in this study was within the 
      reported range of 0-35 per cent. All abnormal genotypes were clinically 
      correlated. Further analysis with array technologies presents a future prospect. 
      Our results suggest the need to test individuals with ID/DD for subtelomeric 
      rearrangements using sensitive methods such as FISH.
FAU - Mohan, Shruthi
AU  - Mohan S
AD  - Department of Human Genetics, Sri Ramachandra University, Porur, India.
FAU - Koshy, Teena
AU  - Koshy T
AD  - Department of Human Genetics, Sri Ramachandra University, Porur, India.
FAU - Vekatachalam, Perumal
AU  - Vekatachalam P
AD  - Department of Human Genetics, Sri Ramachandra University, Porur, India.
FAU - Nampoothiri, Sheela
AU  - Nampoothiri S
AD  - Department of Paediatric Genetics, Amrita Institute of Medical Sciences, Kochi, 
      India.
FAU - Yesodharan, Dhanya
AU  - Yesodharan D
AD  - Department of Paediatric Genetics, Amrita Institute of Medical Sciences, Kochi, 
      India.
FAU - Gowrishankar, Kalpana
AU  - Gowrishankar K
AD  - Department of Medical Genetics, CHILDS Trust Medical Research Foundation, Kanchi 
      Kamakoti CHILDS Trust Hospital, Chennai, India.
FAU - Kumar, Jeevan
AU  - Kumar J
AD  - Department of Medical Genetics, CHILDS Trust Medical Research Foundation, Kanchi 
      Kamakoti CHILDS Trust Hospital, Chennai, India.
FAU - Ravichandran, Latha
AU  - Ravichandran L
AD  - Department of Paediatrics, Sri Ramachandra University, Porur, India.
FAU - Joseph, Santhosh
AU  - Joseph S
AD  - Department of Radiology, Sri Ramachandra University, Porur, India.
FAU - Chandrasekaran, Anupama
AU  - Chandrasekaran A
AD  - Department of Radiology, Sri Ramachandra University, Porur, India.
FAU - Paul, Solomon F D
AU  - Paul SF
AD  - Department of Human Genetics, Sri Ramachandra University, Porur, India.
LA  - eng
PT  - Journal Article
PL  - India
TA  - Indian J Med Res
JT  - The Indian journal of medical research
JID - 0374701
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Aberrations
MH  - Developmental Disabilities/*genetics/pathology
MH  - Female
MH  - Gene Rearrangement/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infant
MH  - Intellectual Disability/*genetics/pathology
MH  - Karyotype
MH  - Male
MH  - Telomere/*genetics
PMC - PMC5206871
COIS- None.
EDAT- 2016/12/10 06:00
MHDA- 2019/03/21 06:00
PMCR- 2016/08/01
CRDT- 2016/12/10 06:00
PHST- 2016/12/10 06:00 [entrez]
PHST- 2016/12/10 06:00 [pubmed]
PHST- 2019/03/21 06:00 [medline]
PHST- 2016/08/01 00:00 [pmc-release]
AID - IndianJMedRes_2016_144_2_206_195031 [pii]
AID - IJMR-144-206 [pii]
AID - 10.4103/0971-5916.195031 [doi]
PST - ppublish
SO  - Indian J Med Res. 2016 Aug;144(2):206-214. doi: 10.4103/0971-5916.195031.