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

Mosaic trisomy 15 and hemihypertrophy.

M Gérard-Blanluet1, A Elbez, A Bazin

  • 1Service de Pédiatrie Néonatale, Centre Hospitalier Intercommunal, 40 Avenue de Verdun, 94010, Créteil, France. marion.gerard@chicreteil.fr

Annales De Genetique
|November 6, 2001
PubMed
Summary

This study details a rare case of mosaic trisomy 15, presenting with developmental delay and hemihypertrophy, distinct from Prader-Willi or Angelman syndromes. This finding highlights a novel association in genetic disorders.

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

Effect of single-unit transfusion in patients treated for haematological disease including acute leukemia: A multicenter randomized controlled clinical trial.

Leukemia research·2023
Same author

How I do it a microsurgical neurovascular decompression for hemifacial spasm.

European annals of otorhinolaryngology, head and neck diseases·2021
Same author

Efficacy of microsurgical vascular decompression in trigeminal neuralgia.

European annals of otorhinolaryngology, head and neck diseases·2020
Same author

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

The British journal of dermatology·2018
Same author

Drilling and control of the internal auditory canal by fixed endoscope.

European annals of otorhinolaryngology, head and neck diseases·2018
Same author

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

The British journal of dermatology·2018

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Mosaic trisomy, characterized by the presence of an extra chromosome in some cells, can lead to diverse clinical presentations.
  • Prader-Willi and Angelman syndromes are typically associated with chromosome 15 abnormalities, but not exclusively.

Observation:

  • A case of mosaic trisomy 15 (11%) was identified during amniocentesis.
  • The patient exhibited mental retardation, facial dysmorphism, and progressive right hemihypertrophy, with no features of Prader-Willi or Angelman syndromes.
  • Postnatal evaluations, including blood karyotype, were normal, but mosaicism was confirmed in fibroblasts, placenta, and cord.

Findings:

  • Molecular analysis excluded uniparental disomy for chromosome 15.
  • This case represents the first reported instance of hemihypertrophy associated with mosaic trisomy 15.

Related Experiment Videos

  • The patient experienced developmental delay alongside the observed hemihypertrophy.

    • Implications:

    • This case expands the known phenotypic spectrum of mosaic trisomy 15.
    • It underscores the importance of considering mosaic trisomy in cases with unexplained developmental delay and hemihypertrophy.
    • Further research is needed to understand the mechanisms linking mosaic trisomy 15 to hemihypertrophy.