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References
Buiting K., Greger V. and Brownstein B. H. 1992 A putative gene family in 15q11.13 and 16p11.2: possible implications for Prader–Willi and Angelman syndromes. Proc. Natl. Acad. Sci. USA 89, 5457–5461.
Curry C. J., Stevenson R. E., Aughton D., Byrne J., Carey J. C., Cassidy S. et al. 1997 Evaluation of mental retardation: recommendations of a consensus conference. Am. J. Med. Genet. 72, 468–477.
de Luca A., Bottillo I., Dasdia M. C., Morella A., Lanari V., Bernardini L. et al. 2007 Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification . J. Med. Genet. 44, 800–808.
de Vries B. B. A., White S. M., Knight S. J. L., Regan R., Homfray T., Young I. D. et al. 2001 Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J. Med. Genet. 38, 145–150.
Holla Ø. L., Teie C., Berge K. E. and Leren T. P. 2005 Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA. Clin. Chim. Acta 356, 164–171.
Homig-Holzel C. and Savola S. 2012 Multiplex ligation-dependent probe amplification (MLPA) in tumor diagnostics and prognostics. Diagn. Mol. Pathol. 21, 189–206.
Janowski S., Currie-Fraser E., Xu L. and Coffa J. 2008 Multiplex ligation-dependent probe amplification analysis on capillary electrophoresis instruments for a rapid gene copy number study. J. Biomol. Tech. 19, 238–243.
John N., Rajasekhar M., Girisha K. M., Sharma P. S. V. N. and Gopinath P. M. 2013 Multiplex ligation-dependent probe amplification study of children with idiopathic mental retardation in south India. India. J. Hum. Genet. 19, 165–170.
Koolen D. A., Nillesen W. M., Versteeg M. H., Merkx G. F., Knoers N. V., Kets M. et al. 2004 Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation-dependent probe amplification (MLPA). J. Med. Genet. 41, 892–899.
Menten B., Maas N., Thienpont B., Buysse K., Vandesompele J., Melotte C. et al. 2006 Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J. Med. Genet. 43, 625–633.
Moeschler J. B. and Shevell M. 2014 Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics 134, e903–e918.
Moeschler J. B. and Shevell M. 2006 Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 117, 2304–2316.
Mohan S., Koshy T., Perumal V., Nampoothiri S., Yesodharan D., Gowrishankar K. et al. 2016 Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/ developmental delay: frequency estimation and clinical correlation using FISH. Indian J. Med. Res. (in press).
Mundhofir F. E. P., Nillesen W. M., Van Bon B. W. M., Smeets D., Pfundt R., van de Ven-Schobers G. et al. 2013 Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: a clinical and molecular study. Indian J. Hum. Genet. 19, 171–178.
Murugesan S., Chandramohan A. and Lakshmi B. R. 2010 Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis. Indian J. Med. Res. 132, 303–311.
Raynham H., Gibbons R., Flint R. and Higgs D. 1996 The genetic basis for mental retardation. Q. J. Med. 89, 169–175.
Rio M., Molinari F., Heuertz S., Ozilou C., Gosset P., Raoul O. et al. 2002 Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromicmental retardation. J. Med. Genet. 39, 266–270.
Schouten J. P., McElgunn C. J., Waaijer R., Zwijnenburg D., Diepvens F. and Pals G. 2002 Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30, e57.
van Ommen G. J. 2005 Frequency of new copy number variation in humans. Nat. Genet. 37, 333–334.
Verma I. C. 2000 Burden of genetic disorders in India. Indian J. Pediatr. 67, 893–898.
Acknowledgements
We thank Dr Ashwin Dalal, Centre for DNA Fingerprinting and Diagnostics, for his valuable inputs. We are grateful to Dr Sheela Nampoothiri, AIMS; Dr Kalpana Gowrishankar, KKCTH and Dr Latha Ravichandran, SRU for evaluation of study participants. We also thank Ms Mohanapriya, SRU for her assistance.
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[Mohan S., Venkatesan V., Fd Paul S., Koshy T. and Perumal V. 2016 Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification. J. Genet. 95, xx–xx]
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MOHAN, S., VENKATESAN, V., PAUL, S.F. et al. Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification. J Genet 95, 469–474 (2016). https://doi.org/10.1007/s12041-016-0644-z
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DOI: https://doi.org/10.1007/s12041-016-0644-z