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 highly complex rea(2;3;11) and aniridia by position effect.

H Rivera1, M L Ayala-Madrigal, J P Barros-Núñez

  • 1Universidad de Guadalajara e Instituto Mexicano del Seguro Social, Guadalajara, Jal., Mexico. hrivera@cencar.udg.mx

Cytogenetic and Genome Research
|May 24, 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

Patricia A. Jacobs (1934-2026).

American journal of human genetics·2026
Same author

Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.

European review for medical and pharmacological sciences·2022
Same author

Development of a new peptide-bead coupling method for an all peptide-based Luminex multiplexing assay for detection of Plasmodium falciparum antibody responses.

Journal of immunological methods·2021
Same author

DID A del(2)(p11.2p13),inv(2)(p11.2q31) REARRANGEMENT RESULT FROM A GERMLINE RECIPROCAL INTRACHROMOSOME INSERTION?

Genetic counseling (Geneva, Switzerland)·2018
Same author

Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability.

Clinical genetics·2018
Same author

[Wolf-Hirschhorn syndrome: just a citation omission?]

Revista de neurologia·2017
Same journal

Genomic Organization of Ribosomal DNA and Karyotypic Diversity in Vicia sativa and Vicia villosa.

Cytogenetic and genome research·2026
Same journal

George Martin and Werner's Syndrome.

Cytogenetic and genome research·2026
Same journal

The Spectrum of Mosaic Double Aneuploidy of Monosomy X and Trisomy 18: Two New Cases and Review of the Literature.

Cytogenetic and genome research·2026
Same journal

Familial Robertsonian Translocation, rob(14;21), with High Risk for Down Syndrome.

Cytogenetic and genome research·2026
Same journal

Radiosensitivity and Bystander Response in X-Ray-Irradiated Tumour and Normal Epithelial Cells of Breast and Prostate Origin.

Cytogenetic and genome research·2026
Same journal

Cytogenetic Profile of Acute Lymphoblastic Leukaemia in South India: A Series of 1,819 Patients from a Single Centre.

Cytogenetic and genome research·2026
See all related articles

A complex chromosomal rearrangement in a child with aniridia and psychomotor retardation was identified. This involved a 300-kb segment insertion, causing PAX6 gene haploinsufficiency and WAGR syndrome features.

Area of Science:

  • Human Genetics
  • Molecular Cytogenetics
  • Developmental Biology

Background:

  • De novo complex chromosomal rearrangements (CCRs) can cause diverse congenital anomalies.
  • The Wilms, Aniridia, Genital anomalies and Retardation (WAGR) region is associated with specific genetic syndromes.

Observation:

  • A two-year-old boy presented with bilateral aniridia and psychomotor retardation.
  • G-banding and FISH assays revealed a de novo (2;3;11) CCR with approximately 15 breakpoints and multiple inter/intrachromosomal anomalies involving chromosome 11.

Findings:

  • A 300-kb segment insertion, specifically between cosmids FO2121 and FAT5 (PAX6), was identified as the cause of aniridia.
  • This insertion led to functional haploinsufficiency of the PAX6 gene via a position effect, without deleting the gene itself.

Related Experiment Videos

Implications:

  • This case highlights the importance of high-resolution molecular cytogenetic studies in diagnosing complex genetic disorders.
  • Understanding CCRs and their impact on gene regulation is crucial for diagnosing and managing rare pediatric conditions.
  • Position effects due to chromosomal rearrangements can cause disease phenotypes even without gene deletion.