Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Structural chromosomal anomaly in mental retardation.

K S Reddy1, S Rajangam, I M Thomas

  • 1Department of Anatomy, St. John's Medical College, Bangalore.

Indian Journal of Pediatrics
|May 8, 2000
PubMed
Summary

This study identifies structural chromosomal abnormalities, including reciprocal translocations and giant satellites, in patients with mental retardation. Karyotyping is crucial for accurate diagnosis and genetic counseling in these cases.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Associations of meteorological variability with sesame yield in semi-arid Bundelkhand region of India.

Scientific reports·2026
Same author

Floral and pollination biology of dragon fruit reveals strategies for enhancing productivity through pollination management and reproductive window extension.

Scientific reports·2025
Same author

Innovative and polygonal trend analysis of temperature in agro climatic zones of India.

Scientific reports·2024
Same author

Health effects of selected environmental Exposomes Across the Life courSe in Indian populations using longitudinal cohort studies: GEOHealth HEALS Study protocol.

BMJ open·2024
Same author

India led health innovation(s) for achieving the SDG health goal in the global South.

Perspectives in public health·2022
Same author

COVID-19: Impact analysis and recommendations for power sector operation.

Applied energy·2020

Area of Science:

  • Human Genetics
  • Cytogenetics
  • Medical Genetics

Background:

  • Chromosomal abnormalities are a significant cause of intellectual disability and developmental disorders.
  • Accurate diagnosis is essential for appropriate patient management and genetic counseling.
  • Karyotyping remains a fundamental tool in identifying structural chromosomal anomalies.

Observation:

  • Three pediatric cases with distinct structural chromosomal anomalies were analyzed.
  • Case 1: A five-year-old female with reciprocal translocation (1;2)(p32;q11).
  • Case 2: A 14-year-old female with de novo translocation (1;3)(q42;q13).
  • Case 3: An 18-month-old male with microcephaly and seizures, potentially linked to an autosomal recessive condition, and a variant chromosome 13 with a giant satellite of paternal origin.

Related Experiment Videos

Findings:

  • Reciprocal translocations on chromosomes 1, 2, and 3 were identified in two patients.
  • A de novo origin was confirmed for the translocations in one patient.
  • A variant chromosome 13 with a giant satellite, inherited paternally, was observed.
  • The association of microcephaly and seizures in the third patient suggests a possible autosomal recessive disorder.

Implications:

  • This report highlights the diagnostic utility of karyotyping in identifying diverse chromosomal anomalies.
  • Early and accurate diagnosis through cytogenetic analysis facilitates appropriate genetic counseling.
  • Understanding the specific chromosomal aberrations aids in predicting prognosis and recurrence risks.