Genetic Approach to Diagnosis of Intellectual Disability.
Intellectual disability is a non-specific phenotype present in a genetically heterogeneous group of disorders. It is characterized by deficits in intellectual and adaptive functioning, presenting before 18 y of age. Identifying the cause of ID is important to provide treatment where available, genetic counseling, recurrence risks and reproductive options for subsequent pregnancies. Advances in technology, especially next generation sequencing and microarrays, have greatly increased the diagnostic yield of evaluation in cases of ID. This paper describes the points in history taking and examination in the evaluation of a proband, and discusses the proper use of newer diagnostic technologies.
Ganga Ram Institute of Postgraduate Medical Research and Education, Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India. ratnadpuri@yahoo.com.
Ratna Dua
RD
Puri
Ganga Ram Institute of Postgraduate Medical Research and Education, Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.
Moni
M
Tuteja
Ganga Ram Institute of Postgraduate Medical Research and Education, Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.
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IC
Verma
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005817:Genetic Counseling; D015316:Genetic Therapy; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype
Etiology; Intellectual disability; Metabolic; Microarray; Next generation sequencing; Single gene disorders