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Related Concept Videos

Intellectual Disability01:29

Intellectual Disability

Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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Published on: February 21, 2015

Structural genomic variation in intellectual disability.

Rolph Pfundt1, Joris A Veltman

  • 1Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Methods in Molecular Biology (Clifton, N.J.)
|January 10, 2012
PubMed
Summary
This summary is machine-generated.

Genetic causes of mental retardation are diverse. Copy number variations (CNVs) detected by genomic microarrays are increasingly important for diagnosing intellectual disability, offering greater insight than traditional methods.

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Area of Science:

  • Genetics
  • Medical Diagnostics
  • Genomic Medicine

Background:

  • Mental retardation (intellectual disability) has complex genetic origins, often involving heterogeneous causes.
  • While mutations and large chromosomal abnormalities are known contributors, subtle genomic variations play a significant role.

Purpose of the Study:

  • To provide an overview of detecting and interpreting copy number variations (CNVs) in mental retardation.
  • To focus on the diagnostic applications of CNV screening in intellectual disability.

Main Methods:

  • Genomic microarrays are utilized for high-resolution screening of rare de novo CNVs.
  • Microarray-based CNV screening is replacing conventional karyotyping in diagnostic workflows.

Main Results:

  • Genomic microarrays identify CNVs in approximately 15% of patients with mental retardation.
  • This approach increases diagnostic yield and provides biological insights into the disorder.

Conclusions:

  • Microarray-based CNV analysis is a powerful diagnostic tool for intellectual disability.
  • The chapter details protocols for the diagnostic interpretation of CNVs in this patient population.