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

Segregation frequency in microcephaly.

M Sujatha1, C K Kumari, J S Murty

  • 1Institute of Genetics, Hospital for Genetic Diseases, Osmania University, Andhra Pradesh, India.

Human Genetics
|March 1, 1989
PubMed
Summary
This summary is machine-generated.

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

Deep learning integrated plasmonic electrochemical sensing for fast and accurate pathogen detection.

Scientific reports·2026
Same author

Assessment of flood vulnerability in a coastal metropolitan city for sustainable environmental using machine learning methods.

Scientific reports·2025
Same author

Characterization of <i>Fusarium oxysporum</i> f. sp. <i>lini</i> based on ITS and SSR Markers and identification of resistance of Indian Linseed (<i>Linum usitatissimum</i> L.) to <i>Fusarium oxysporum</i> f. sp. <i>lini</i>.

3 Biotech·2025
Same author

Assessment of cyclone risk and case study of Gaja cyclone using GIS techniques and machine learning algorithms in coastal zone of Tamil Nadu, India.

Environmental research·2023
Same author

First Report of Powdery Mildew Caused by Erysiphe diffusa on Cluster Bean in India.

Plant disease·2022
Same author

First Report of Molecular Detection of <i>Leveillula taurica</i> Associated with Powdery Mildew of Linseed (<i>Linum usitatissimum</i>) from India.

Plant disease·2021
Same journal

A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome.

Human genetics·2026
Same journal

Blending borders: reconstructing the genetic history of the Sindhi population.

Human genetics·2026
Same journal

Within-sibling attenuation of polygenic risk score accuracy: investigating the effects of principal component analysis, LD score regression, and mixed model association in the UK Biobank.

Human genetics·2026
Same journal

Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism.

Human genetics·2026
Same journal

A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling.

Human genetics·2026
Same journal

AI in variant analysis: fast track to genetic diagnoses.

Human genetics·2026
See all related articles

Primary microcephaly, particularly in consanguineous cases, likely results from a single recessive gene. Other microcephaly types show lower genetic risks, suggesting diverse etiologies for this congenital condition.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Microcephaly is a complex neurodevelopmental disorder characterized by a smaller than normal head circumference.
  • Understanding the genetic underpinnings of microcephaly is crucial for diagnosis and genetic counseling.
  • Clinical evaluation often categorizes microcephaly into primary and secondary forms based on associated features.

Purpose of the Study:

  • To investigate the genetic etiology of microcephaly by analyzing segregation frequencies in clinically distinct groups.
  • To differentiate the genetic risks associated with primary versus secondary microcephaly.
  • To identify potential inheritance patterns for different types of microcephaly.

Main Methods:

  • Clinical evaluation of 118 microcephaly cases, divided into primary (61 cases) and secondary (57 cases) groups.

Related Experiment Videos

  • Analysis of segregation frequencies within each group to estimate genetic risks.
  • Assessment of clinical characteristics, including congenital anomalies and neurological signs, in secondary microcephaly cases.

    • Main Results:

    • Primary microcephaly cases, especially those with consanguineous parents, exhibited segregation frequencies consistent with a single recessive gene.
    • Secondary microcephaly cases were frequently associated with convulsions, spasticity, and other congenital anomalies.
    • Segregation frequencies were significantly lower in secondary microcephaly and other non-primary types, indicating reduced genetic risks.

    Conclusions:

    • A single recessive gene is the probable cause for primary consanguineous microcephaly.
    • Secondary microcephaly and other forms of the condition appear to have lower and more varied genetic risks.
    • These findings aid in understanding the heterogeneous genetic basis of microcephaly and inform genetic counseling.