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

Multifactorial inheritance of non-syndromic macrocephaly

L Arbour1, G V Watters, J G Hall

  • 1Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

Clinical Genetics
|August 1, 1996
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

Evidence for functional state transitions in intensively-managed soil ecosystems.

Scientific reports·2018
Same author

Case of Snake-Bite.

The Indian medical gazette·2017
Same author

A Case of Ovarian Fœtation.

The Indian medical gazette·2017
Same author

Abdominal Section.

The Indian medical gazette·2017
Same author

Some New Methods of Treatment.

The Indian medical gazette·2017
Same author

Vesico-Vaginal Fistula.

The Indian medical gazette·2017
Same journal

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Clinical genetics·2026
Same journal

Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain.

Clinical genetics·2026
Same journal

A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.

Clinical genetics·2026
Same journal

From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy.

Clinical genetics·2026
Same journal

Biallelic Variants in ATP1A4 Are Associated with Oligoasthenoteratozoospermia and Male Infertility.

Clinical genetics·2026
Same journal

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

Clinical genetics·2026
See all related articles

Non-syndromic macrocephaly is typically multifactorial with a polygenic genetic basis, not autosomal dominant. This finding suggests a lower recurrence risk and potential birth injury risks in certain cases.

Area of Science:

  • Genetics
  • Pediatrics
  • Human Biology

Background:

  • Non-syndromic macrocephaly (enlarged head without other syndromic features) has been previously suggested to be inherited in an autosomal dominant pattern.
  • Reevaluation of this inheritance pattern is crucial for accurate genetic counseling and risk assessment.

Purpose of the Study:

  • To investigate the inheritance pattern of non-syndromic macrocephaly.
  • To determine if autosomal dominant inheritance is the primary mode of transmission.

Main Methods:

  • Measurement of head circumference in parents and siblings of children diagnosed with non-syndromic macrocephaly.
  • Analysis of the distribution of head sizes to assess for unimodal versus bimodal patterns, indicative of multifactorial versus dominant inheritance, respectively.

Related Experiment Videos

Main Results:

  • Parents and siblings of macrocephalic probands exhibited head circumferences significantly larger than the population norm.
  • The distribution of head sizes in relatives was unimodal, contradicting the expected bimodal distribution for autosomal dominant inheritance.
  • Macrocephalic probands with psychomotor impairment showed larger head sizes and a higher incidence of birth difficulties compared to unimpaired probands.

Conclusions:

  • The genetic basis of non-syndromic macrocephaly is predominantly multifactorial with polygenic influence, rather than autosomal dominant.
  • The recurrence risk for non-syndromic macrocephaly is likely lower than previously assumed under an autosomal dominant model.
  • Parental or sibling macrocephaly may indicate an increased risk of birth injury for a future child, warranting further investigation.