Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation.
OBJECTIVE
To detect subtelomeric copy number variations (deletions and duplications) using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique in children with idiopathic mental retardation.


METHODS
All children presenting to the genetics out-patient department for evaluation of mental retardation or developmental delay over a period of two years, for whom no identifiable cause could be found by clinical evaluation, karyotyping, neuroimaging and other relevant investigations.


RESULTS
In the present study, two cases deletions and one case of duplication were detected amongst 65 cases with idiopathic mental retardation/ global developmental delay. The overall detection rate is 4.6%. The detection rate is higher (13%) in children with facial dysmorphism.


CONCLUSIONS
MLPA for subtelomeric regions is recommended for evaluation of children with idiopathic mental retardation/ global developmental delay were included in the study.
Mandal
Kausik
K
Department of Medical Genetic, Sanjay Gandhi Post Graduate Institute of Medical Science, Lucknow, India.
Boggula
Vijay R
VR
Borkar
Minal
M
Agarwal
Suraksha
S
Phadke
Shubha R
SR
D000293:Adolescent; D017677:Age Distribution; D002648:Child; D002675:Child, Preschool; D016001:Confidence Intervals; D002658:Developmental Disabilities / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D017353:Gene Deletion; D020440:Gene Duplication; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015994:Incidence; D007194:India; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D016017:Odds Ratio; D011336:Probability; D011446:Prospective Studies; D017678:Sex Distribution; D016615:Telomere / Q000235:genetics