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

False negative findings at third trimester chorionic villus sampling (C.V.S.).

N J Leschot1, H Wolf, G H Weenink

  • 1Department of Human Genetics, University of Amsterdam, The Netherlands.

Clinical Genetics
|September 1, 1988
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

[Oral hairy leukoplakia in human immunodeficiency virus positive patients: clinical and etiopathogenic aspects].

Acta otorrinolaringologica espanola·1992
Same author

Reactivities of HIV-1 gag-derived peptides with antibodies of HIV-1-infected and uninfected humans.

AIDS research and human retroviruses·1992
Same author

Assessment of major histocompatibility complex class I interaction with Epstein-Barr virus and human immunodeficiency virus peptides by elevation of membrane H-2 and HLA in peptide loading-deficient cells.

European journal of immunology·1992
Same author

Localization and identification of T-(Gal beta 1-3GalNAc alpha 1-O-R) and T-like antigens in experimental rat bladder cancer.

The Journal of urology·1992
Same author

Human urinary bladder carcinoma glycoconjugates expressing T-(Gal beta(1-3)GalNAc alpha 1-O-R) and T-like antigens: a comparative study using peanut agglutinin and poly- and monoclonal antibodies.

Cancer research·1992
Same author

Determination of placental ferritin (PLF)-positive lymphocytes in women in early stages of breast cancer.

International journal of cancer·1992

A prenatal diagnosis revealed a discrepancy in fetal chromosome analysis. Postnatal testing confirmed mosaic trisomy 18 in the stillborn infant, impacting both lymphocytes and placental tissue.

Area of Science:

  • Genetics
  • Prenatal Diagnosis
  • Fetal Medicine

Background:

  • Accurate prenatal diagnosis is crucial for managing genetic disorders.
  • Karyotyping of fetal cells is a standard diagnostic procedure.
  • Discrepancies in karyotyping can arise from various sources, including mosaicism.

Observation:

  • A 30-week pregnancy presented with conflicting karyotype results: chorionic cells showed 46,XX, while cultured amniotic fluid cells indicated 47,XX,+18.
  • A stillborn female infant exhibited external features consistent with trisomy 18 syndrome.
  • Subsequent analysis revealed a mosaic pattern in the infant's lymphocytes and placental tissue.

Findings:

  • The observed karyotypic discrepancy was attributed to mosaic trisomy 18.
  • Mosaicism in trisomy 18 involves the presence of both normal and abnormal cell lines.

Related Experiment Videos

  • Confirmation of mosaicism in multiple tissues (lymphocytes, placenta) is critical for accurate diagnosis.

    • Implications:

    • This case highlights the importance of investigating discordant prenatal genetic findings.
    • Mosaic trisomy 18 can present diagnostic challenges and requires careful interpretation.
    • Understanding tissue-specific mosaicism is essential for genetic counseling and clinical management.