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Related Concept Videos

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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A functional eukaryotic chromosome must contain three elements: a centromere, telomeres, and numerous origins of replication.
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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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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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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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In 1866, Gregor Mendel published the results of his pea plant breeding experiments, providing evidence for predictable patterns in the inheritance of physical characteristics. The significance of his findings was not immediately recognized. In fact, the existence of genes was unknown at the time. Mendel referred to hereditary units as “factors.”
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Updated: Jan 31, 2026

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
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Sagittal Craniosynostosis Associated With Chromosome 16p13.3 Duplication.

Sarut Chaisrisawadisuk1, Inthira Khampalikit2, Achara Sathienkijkanchai3

  • 1Division of Plastic Surgery, Department of Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

The Journal of Craniofacial Surgery
|January 29, 2026
PubMed
Summary

This case report details a rare association between sagittal craniosynostosis and a chromosome 16p13.3 duplication. Chromosomal microarray analysis proved crucial for diagnosis, highlighting its value in syndromic craniosynostosis cases.

Keywords:
Chromosome 16p13.3 duplicationcranial vault remodellingcraniofacial abnormalitiescraniosynostosisgenetic testingmultidisciplinary caresagittal synostosis

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Area of Science:

  • Genetics
  • Pediatric Surgery
  • Developmental Biology

Background:

  • Sagittal craniosynostosis, the most common nonsyndromic craniosynostosis, often results in scaphocephaly and is more prevalent in males.
  • Craniosynostosis can be associated with genetic abnormalities, necessitating advanced diagnostic techniques.

Purpose of the Study:

  • To report a previously unrecognized association between chromosome 16p13.3 duplication and sagittal craniosynostosis.
  • To emphasize the diagnostic utility of chromosomal microarray analysis in syndromic craniosynostosis.

Main Methods:

  • Case presentation of a 2-month-old boy with sagittal craniosynostosis.
  • Utilized chromosomal microarray analysis (CMA) to detect a chromosome 16p13.3 duplication, despite a normal karyotype.
  • Documented clinical features including dysmorphic facies, cardiac defects, and undescended testes.

Main Results:

  • The patient presented with sagittal craniosynostosis and a novel chromosome 16p13.3 duplication.
  • Surgical intervention (cranial vault remodeling) at 23 months led to significant improvement in head shape.
  • Follow-up revealed a normal head shape but indicated mild developmental delay.

Conclusions:

  • Chromosomal microarray analysis is invaluable for diagnosing syndromic craniosynostosis, even with a normal karyotype.
  • This case highlights a new association between chromosome 16p13.3 duplication and craniosynostosis.
  • Multidisciplinary care is essential for managing complex cases involving genetic abnormalities and craniofacial anomalies.