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

Interstitial deletion (6)q13q15

R Gershoni-Baruch1, H Mandel, H Bar El

  • 1Department of Human Genetics, Rambam Medical Center, Haifa, Israel.

American Journal of Medical Genetics
|April 24, 1996
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

Redox phospholipidomics of enzymatically generated oxygenated phospholipids as specific signals of programmed cell death.

Free radical biology & medicine·2019
Same author

A giant exoplanet orbiting a very-low-mass star challenges planet formation models.

Science (New York, N.Y.)·2019
Same author

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.

Clinical genetics·2017
Same author

Early onset breast cancer in Ashkenazi women carriers of founder BRCA1/2 mutations: beyond 10 years of follow-up.

European journal of cancer care·2016
Same author

Response to 'Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects': reply from the authors.

The British journal of dermatology·2016
Same author

Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.

Clinical genetics·2015

This study details a case of a 2-year-old boy with developmental delays and physical abnormalities. His chromosomal analysis revealed a specific deletion on chromosome 6, contributing to understanding proximal 6q deletion syndromes.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Syndromic genetic disorders often present with complex phenotypes.
  • Chromosome 6 deletions are associated with a range of developmental abnormalities.
  • Establishing karyotype-phenotype correlations is crucial for genetic diagnostics.

Observation:

  • A 2-year-old male patient exhibited psychomotor retardation.
  • Distinct facial and urogenital anomalies were noted in the patient.
  • Karyotyping identified a specific chromosomal abnormality: 46,XY, del(6)(q13q15).

Findings:

  • The patient's chromosomal constitution, 46,XY, del(6)(q13q15), precisely defines a proximal deletion on the long arm of chromosome 6.
  • This specific deletion breakpoint (q13q15) is linked to the observed clinical features.

Related Experiment Videos

  • The case provides valuable data for the karyotype-phenotype correlation in proximal 6q deletion syndromes.

    • Implications:

    • This report expands the understanding of the genetic basis for developmental disorders.
    • Accurate karyotype-phenotype correlations aid in genetic counseling and clinical management.
    • Further research into 6q deletions can refine diagnostic criteria and therapeutic strategies.