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Intellectual Disability01:29

Intellectual Disability

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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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Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also...
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In 1882, Flemming observed lampbrush chromosomes (LBC) in salamander eggs. Later in 1892, Rückert observed LBCs in shark egg cells and coined the term "lampbrush chromosomes" because they looked like brushes used to clean kerosene lamps.
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A functional eukaryotic chromosome must contain three elements: a centromere, telomeres, and numerous origins of replication.
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Before a cell can divide, it must accurately replicate all of its chromosomes, including the DNA and its associated histone and non-histone proteins.  This process begins at numerous origins of replication during the S phase of the cell cycle in each of a cell’s chromosomes simultaneously. Certain nucleotides can act as origins of replication, but these sequences are not well defined - especially in complex, multi-cellular, eukaryotic species. The length of DNA that spans an origin...
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Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
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Quantitative Assessment of Cortical Auditory-tactile Processing in Children with Disabilities
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Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability.

Pinar Arican1, Nihal Olgac Dundar2, Berk Ozyilmaz3

  • 1Department of Pediatric Neurology, Tepecik Training and Research Hospital, Izmir, Turkey.

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|February 19, 2019
PubMed
Summary
This summary is machine-generated.

Chromosomal microarray (CMA) analysis is a key diagnostic tool for developmental delay/intellectual disability (DD/ID). This study found CMA detected pathogenic copy number variants (CNVs) in 12% of patients, aiding genetic diagnoses.

Keywords:
chromosomal microarray analysisdevelopmental delayintellectual disabilitymicrodeletion/microduplication

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Area of Science:

  • Genetics
  • Medical Diagnostics
  • Developmental Biology

Background:

  • Chromosomal microarray (CMA) is recommended for diagnosing developmental delay/intellectual disability (DD/ID) and autism spectrum disorders.
  • Identifying copy number variants (CNVs) is crucial for understanding the genetic basis of DD/ID.

Purpose of the Study:

  • To evaluate the diagnostic yield of CMA in patients with unexplained DD/ID.
  • To assess the types and significance of CNVs detected by CMA in this cohort.

Main Methods:

  • Retrospective analysis of CMA data from 210 patients with unexplained DD/ID.
  • Categorization of detected CNVs as pathogenic, of uncertain significance, or benign.

Main Results:

  • Pathogenic CNVs were identified in 26 (12%) patients.
  • Variants of uncertain clinical significance were found in 36 (17%) patients.
  • CMA facilitated the diagnosis of well-recognized genetic syndromes in 12 patients and identified novel de novo CNVs.

Conclusions:

  • CMA is a valuable tool for diagnosing unexplained DD/ID, identifying pathogenic CNVs and genetic syndromes.
  • The findings support the routine use of CMA in the diagnostic workup of DD/ID.