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Related Experiment Video

Updated: May 21, 2026

Application of Passive Head Motion to Generate Defined Accelerations at the Heads of Rodents
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Published on: July 21, 2022

Happy Puppet syndrome.

Priyanka Airen Sarkar1, Anand Shigli, Chetan Patidar

  • 1Department of Pediatric Dentistry, Modern Dental College and Research Centre, Indore, India. priyankairen@gmail.com

BMJ Case Reports
|June 8, 2012
PubMed
Summary

Angelman syndrome (AS), a neuro-genetic disorder, involves chromosome 15 deficits causing developmental delays and unique behaviors. A case study highlights a girl with AS diagnosed via chromosomal analysis revealing a 15q microdeletion.

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Chromosomal Abnormalities

Background:

  • Angelman syndrome (AS) is a rare neuro-genetic disorder.
  • It is characterized by a partial deficit of paired autosomal chromosome 15.
  • AS presents with intellectual and developmental delays, seizures, sleep disturbances, and distinctive behavioral features.

Observation:

  • A 6.5-year-old girl exhibited clinical signs suggestive of AS at age 4.
  • Symptoms included mental retardation, epilepsy, absence of speech, gait impairment, and unprovoked laughter.
  • These clinical observations prompted further genetic investigation.

Findings:

  • Fluorescent in situ hybridization (FISH) analysis was performed.
  • The analysis revealed a microdeletion on the maternally derived allele of chromosome 15q.

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  • This finding confirms the genetic basis of AS in the presented case.
  • Implications:

    • This case reinforces the diagnostic utility of chromosomal analysis in AS.
    • Understanding the genetic underpinnings of AS is crucial for early diagnosis and management.
    • Further research into 15q microdeletions can improve therapeutic strategies for neuro-genetic disorders.