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

Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic

O D Klein1, P D Cotter, D G Albertson

  • 1Division of Medical Genetics, Department of Pediatrics, University of California-San Francisco, San Francisco, CA 94115, USA.

Clinical Genetics
|May 21, 2004
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

Relationship between the dietary inflammatory index and immune function during pregnancy - A secondary analysis of the MicrobeMom2 Study.

European journal of clinical nutrition·2025
Same author

Associations between the postpartum uterine and vaginal microbiota and the subsequent development of purulent vaginal discharge vary with dairy cow breed and parity.

Journal of dairy science·2023
Same author

Reconnecting, Recommitting, and Renewing.

Journal of dental research·2023
Same author

The association between juvenile xanthogranulomas in neurofibromatosis type 1 patients and the development of leukaemia: A systematic review.

Journal of the European Academy of Dermatology and Venereology : JEADV·2023
Same author

Investigation of the gut microbiome, bile acid composition and host immunoinflammatory response in a model of azoxymethane-induced colon cancer at discrete timepoints.

British journal of cancer·2022
Same author

Investigating the Role of Diet and Exercise in Gut Microbe-Host Cometabolism.

mSystems·2020
Same journal

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

Clinical genetics·2026
Same journal

Further Support of Autosomal Recessive CSF3-Related Severe Congenital Neutropenia.

Clinical genetics·2026
Same journal

Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology: A Response Letter.

Clinical genetics·2026
Same journal

Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172.

Clinical genetics·2026
Same journal

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Clinical genetics·2026
Same journal

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.

Clinical genetics·2026
See all related articles

Prader-Willi syndrome (PWS) can arise from complex chromosomal abnormalities beyond typical deletions. A novel translocation case highlights PWS with additional genetic losses, expanding the known PWS phenotype spectrum.

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Prader-Willi syndrome (PWS) is a genetic disorder typically caused by the absence of paternally inherited genes on chromosome 15q11-15q13.
  • Common causes include microdeletions, maternal uniparental disomy, or imprinting defects on chromosome 15.

Observation:

  • A patient presented with multiple congenital anomalies, including craniofacial dysmorphia, microcephaly, bilateral cryptorchidism, and developmental delay.
  • Cytogenetic analysis revealed a de novo translocation, resulting in monosomies for 5p15.2-pter and 15pter-15q13.
  • Methylation analysis confirmed the PWS phenotype by showing only the maternal allele for the SNRPN gene.

Findings:

  • The patient's phenotype was consistent with PWS but expanded, suggesting contributions from the additional chromosomal deletions.

Related Experiment Videos

  • Array comparative genomic hybridization (array CGH) precisely identified deletions in distal 5p and proximal 15q, detailing molecular breakpoints.
  • This case demonstrates PWS resulting from a complex unbalanced translocation involving chromosomes 5 and 15.

    • Implications:

    • Array CGH is a valuable tool for characterizing complex constitutional chromosomal abnormalities at a molecular level.
    • Understanding these complex rearrangements aids in better defining the PWS phenotype and its genetic underpinnings.
    • This finding expands the spectrum of genetic causes for Prader-Willi syndrome and associated developmental issues.