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Related Concept Videos

Gene Duplication and Divergence02:37

Gene Duplication and Divergence

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The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
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Karyotyping01:17

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Overview
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Duplication of Chromatin Structure02:05

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The process of chromosome duplication during cell division requires genome-wide disruption and re-assembly of chromatin. The chromatin structure must be accurately inherited, reassembled, and maintained in the daughter cells to ensure lineage propagation.
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The primary microtubule organizing center (MTOC) in animal cells is the centrosome. A centrosome has two cylindrical centrioles at its core. Each centriole consists of nine sets of three microtubules held together by proteins. The centrioles are positioned at right angles to each other and surrounded by a shapeless protein cloud called the pericentriolar matrix, or pericentriolar material (PCM).
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Polytene Chromosomes02:04

Polytene Chromosomes

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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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Gene Families01:57

Gene Families

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Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
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Updated: Jul 1, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Chromosomal Duplication Syndromes: A Case Series.

Inusha Panigrahi1, Mohammed Shariq, Chitra Bamba

  • 1Department of Pediatrics, Genetic-Metabolic Unit, APC, PGIMER, Chandigarh, India.

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Chromosomal duplication syndromes, often milder than deletions, cause developmental issues. High-throughput technologies now easily identify these copy number variants in children with developmental delay or intellectual disability.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Genetics

Background:

  • Chromosomal deletion and duplication syndromes are linked to intellectual disability, autism, microcephaly, and growth issues.
  • Duplication syndromes typically present with milder manifestations compared to deletion syndromes.
  • Advancements in copy number variant analysis have simplified the identification of these genetic conditions.

Purpose of the Study:

  • To report on 32 cases of chromosomal duplication syndromes identified in children.
  • To highlight the diagnostic capabilities of modern genetic testing technologies.

Main Methods:

  • Karyotyping and microarray analysis were employed to identify chromosomal abnormalities.
  • Patient data was collected from a tertiary care center.

Main Results:

  • Thirty-two cases of chromosomal duplication syndromes were identified in children presenting with developmental delay, intellectual disability, or microcephaly.
  • Seven cases involved isolated duplications, and one child had a co-occurring pathogenic deletion.
  • The identified syndromes presented with a spectrum of dysmorphism, behavioral problems, and intellectual disability.

Conclusions:

  • Chromosomal duplication syndromes can present with milder phenotypes, including developmental and behavioral issues.
  • Modern high-throughput technologies facilitate the easy diagnosis of these genetic conditions.