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

Trisomy 18 at age 21 years.

A Smith1, B Field, B M Learoyd

  • 1Oliver Latham Laboratory, Department of Health, North Ryde, N.S.W., Australia.

American Journal of Medical Genetics
|November 1, 1989
PubMed
Summary

This report details a 21-year-old woman with non-mosaic trisomy 18, highlighting her long-term survival and unique clinical features. The case presents key characteristics of advanced trisomy 18, including delayed puberty.

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

Clotting factors and hepatitis A.

Lancet (London, England)·1992
Same author

Identification of a short nuclear lamin protein selectively expressed during meiotic stages of rat spermatogenesis.

Differentiation; research in biological diversity·1992
Same author

Normal high-resolution karyotypes in 26 unrelated individuals with hereditary colorectal neoplasia.

The American journal of gastroenterology·1992
Same author

Selective digestive tract decontamination and environmental gram-negative bacteria.

The Journal of hospital infection·1992
Same author

Effects of isoflurane anesthesia on glucose tolerance and insulin secretion in Yucatan minipigs.

Laboratory animal science·1992
Same author

Use and effects of food and drinks in relation to daily rhythms of mood and cognitive performance. Effects of caffeine, lunch and alcohol on human performance, mood and cardiovascular function.

The Proceedings of the Nutrition Society·1992

Area of Science:

  • Genetics
  • Human Biology
  • Medical Case Reports

Background:

  • Trisomy 18 (Edwards syndrome) is a severe genetic disorder typically associated with a poor prognosis.
  • Long-term survival into adulthood is rare, making such cases valuable for understanding the condition's natural history.
  • Characterizing the phenotype of adult survivors provides insights into developmental trajectories and management strategies.

Observation:

  • A 21-year-old female with non-mosaic trisomy 18 is presented.
  • She exhibits characteristic facial features, severe kyphoscoliosis, spastic quadriplegia with contractures, and profound intellectual disability.
  • Dental issues, including pyorrhea and tooth loss, were noted.

Findings:

  • The patient experienced her first menstrual cycle at 20.5 years old, with subsequent development of secondary sexual characteristics.
  • This represents a significant finding regarding delayed puberty in individuals with trisomy 18.
  • The case demonstrates the potential for extended survival and the emergence of adult characteristics.

Implications:

  • This case expands the understanding of the phenotypic spectrum and long-term outcomes in non-mosaic trisomy 18.
  • It highlights the possibility of delayed reproductive maturation in adult survivors.
  • Further research into the factors influencing survival and pubertal development in trisomy 18 is warranted.

Related Experiment Videos