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Chromosome Structure02:40

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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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Prenatal Diagnosis Using Chromosomal SNP Microarrays.

Mythily Ganapathi1, Odelia Nahum1, Brynn Levy2

  • 1Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.

Methods in Molecular Biology (Clifton, N.J.)
|December 4, 2018
PubMed
Summary

Chromosomal microarray analysis is a high-resolution genomic tool for diagnosing genetic disorders. It detects copy number and copy-neutral variations in the genome for both prenatal and postnatal applications.

Keywords:
Chromosomal SNP microarrayChromosomal microarray analysisPrenatal diagnosisUltrasound abnormalities

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Area of Science:

  • Genomics
  • Medical Genetics
  • Molecular Diagnostics

Background:

  • Chromosomal microarray analysis (CMA) is a high-resolution genomic technology.
  • It is routinely used clinically for diagnosing genetic conditions linked to genomic losses or gains.
  • Applications include postnatal diagnosis (intellectual disability, developmental delay, congenital anomalies) and prenatal diagnosis (ultrasound anomalies, advanced maternal age).

Purpose of the Study:

  • To describe the application of Chromosomal SNP microarrays in prenatal diagnosis.
  • To highlight the detection of genetic disorders resulting from copy number and copy-neutral genomic changes.

Main Methods:

  • Utilizing Chromosomal SNP microarrays.
  • Applying high-resolution genomic technology for genetic analysis.

Main Results:

  • Chromosomal microarray analysis effectively diagnoses genetic disorders.
  • The technology identifies both copy number variations and copy-neutral alterations in the genome.

Conclusions:

  • Chromosomal SNP microarrays are valuable for prenatal diagnosis of genetic disorders.
  • This genomic technology aids in identifying a range of genetic variations impacting fetal development.