Jove
Visualize
Contact Us

Related Experiment Videos

Familial pericentric inversion (3)(p12q24).

L Lindberg1, K Pelto, G H Borgström

  • 1Department of Medical Genetics, University of Helsinki, Finland.

Human Genetics
|June 1, 1992
PubMed
Summary

This study identified a balanced pericentric inversion of chromosome 3 in a large family. The inversion carriers showed normal fertility and no increased risk of miscarriage, suggesting it may be a harmless chromosome polymorphism.

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

Oral health among children participating in an extended home visiting programme-a case‒control study.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry·2025
Same author

Process efficiency in relation to enzyme pre-treatment duration in black soldier fly larvae composting.

Waste management (New York, N.Y.)·2021
Same author

Socio-economic determinants of vitamin A intake in children under 5 years of age: evidence from Pakistan.

Journal of human nutrition and dietetics : the official journal of the British Dietetic Association·2017
Same author

Low grandparental social support combined with low parental socioeconomic status is closely associated with obesity in preschool-aged children: a pilot study.

Pediatric obesity·2015
Same author

Maintained superiority of chronotherapeutics vs. exercise in a 20-week randomized follow-up trial in major depression.

Acta psychiatrica Scandinavica·2015
Same author

Paediatric ECMO at low-volume paediatric cardiac centres in the Nordic countries.

Acta anaesthesiologica Scandinavica·2015
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

Area of Science:

  • Human Genetics
  • Cytogenetics
  • Reproductive Biology

Background:

  • Familial chromosomal aberrations can impact reproductive outcomes.
  • Pericentric inversions are structural rearrangements that may lead to unbalanced gametes.
  • Understanding the reproductive consequences of specific inversions is crucial for genetic counseling.

Purpose of the Study:

  • To investigate the reproductive history and fertility of individuals carrying a familial pericentric inversion of chromosome 3 (p12q24).
  • To determine if this specific chromosomal rearrangement affects pregnancy outcomes or segregation patterns.
  • To assess the phenotypic impact and potential risks associated with this balanced inversion.

Main Methods:

  • Karyotyping to identify carriers of the pericentric inversion of chromosome 3.
  • Fertility and segregation analysis in a large kindred.
  • Comparison of abortion frequency and live birth rates between inversion carriers and normal relatives.
  • Phenotypic assessment of all family members.

Main Results:

  • 22 (33%) carriers of the balanced familial pericentric inversion of chromosome 3 were identified.
  • Abortion frequency was low in both carrier (6%) and non-carrier (3%) groups, below the European average.
  • No significant differences in mean pregnancies or live births were observed between carriers and non-carriers.
  • Segregation analysis showed a 1:1 ratio (16:13), with equal contribution from males and females.
  • All family members were phenotypically normal, with no observed duplication/deletion syndromes.

Conclusions:

  • The balanced familial pericentric inversion of chromosome 3 (p12q24) appears to have no adverse effects on fertility or pregnancy outcomes in this kindred.
  • This chromosomal rearrangement may represent a harmless chromosome polymorphism.
  • Further studies are warranted to confirm the benign nature of such inversions in broader populations.

Related Experiment Videos