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

A patient with duplication (7)(p22.1pter) characterized by array-CGH.

Laila Zahed1, Tiziano Pramparo, Chantal Farra

  • 1Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. lailaz@aub.edu.lb

American Journal of Medical Genetics. Part A
|December 14, 2006
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

Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults.

Frontiers in pediatrics·2026
Same author

Characterization of cytogenetic abnormalities in Lebanese multiple myeloma patients.

BMC cancer·2025
Same author

Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.

Orphanet journal of rare diseases·2025
Same author

Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case.

European journal of human genetics : EJHG·2025
Same author

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

American journal of medical genetics. Part A·2025
Same author

Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.

Genetics in medicine : official journal of the American College of Medical Genetics·2025

This study details a patient with a rare dup(7)(p22.1) chromosome 7p duplication, smaller than previously reported cases. Phenotype-karyotype correlations are established for 7p duplication syndromes.

Area of Science:

  • Genetics
  • Human Genetics
  • Chromosomal Abnormalities

Background:

  • Terminal duplications of the distal short arm of chromosome 7 (7p) are rare genetic conditions.
  • Approximately 40 cases of 7p duplications, with the smallest reported as dup(7)(p21), have been documented.

Observation:

  • A novel patient case presented with a smaller duplication, designated dup(7)(p22.1).
  • This duplication was identified using G-banding and further characterized by array comparative genomic hybridization (array-CGH).

Findings:

  • The dup(7)(p22.1) represents the smallest terminal duplication of chromosome 7p identified to date.
  • Detailed analysis allowed for establishing phenotype-karyotype correlations.

Implications:

Related Experiment Videos

  • This finding refines the understanding of the critical region for 7p duplication phenotypes.
  • Further research into genotype-phenotype correlations in 7p duplication syndromes is warranted.
  • Clinical geneticists can utilize this data for improved diagnosis and counseling of patients with 7p duplications.