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

Duplication 18q21.31-q22.2.

Caterina Ceccarini1, Lorenzo Sinibaldi, Laura Bernardini

  • 1Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, viale Regina Margherita, Rome, Italy.

American Journal of Medical Genetics. Part A
|January 30, 2007
PubMed
Summary

Mild intellectual disability and dysmorphic features in siblings were linked to a chromosome 18 duplication inherited from their mother. This study clarifies the karyotype-phenotype correlation for rare distal 18q duplications.

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

Utility of Optical Genome Mapping in the Characterisation of the Global Genomic Architecture of Paediatric Central Nervous System Tumours: A Pilot Study.

Neuropathology and applied neurobiology·2026
Same author

Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders.

Scientific reports·2026
Same author

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

EBioMedicine·2026
Same author

Pediatric High-Grade Gliomas and Cancer Predisposition Syndromes: A Retrospective Study.

HGG advances·2026
Same author

Multisystemic Assessment in Andersen-Tawil Syndrome: Report of Eighteen Individuals.

Diagnostics (Basel, Switzerland)·2026
Same author

European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.

Frontiers in public health·2026

Area of Science:

  • Genetics
  • Human Genetics
  • Molecular Biology

Background:

  • Interstitial duplications of the long arm of chromosome 18 (18q) are uncommon genetic alterations.
  • Previous studies on distal 18q duplications often lacked detailed molecular characterization, hindering clear genotype-phenotype correlations.

Observation:

  • Three siblings presented with mild mental retardation and minor dysmorphic features.
  • These siblings inherited an interstitial duplication of chromosome 18 (18q21.31-18q22.2, approximately 12 Mb) from a healthy mother with mosaicism for the same duplication.

Findings:

  • The duplicated region in the siblings was molecularly characterized, providing precise mapping.
  • Comparison with nine previously reported patients with overlapping 18q duplications revealed potential genotype-phenotype correlations.

Related Experiment Videos

Implications:

  • This detailed characterization contributes to understanding the clinical outcomes associated with distal 18q duplications.
  • The findings aid in genetic counseling and diagnosis for families with similar chromosomal abnormalities.