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

Trisomy 6qter

C Turleau, J de Grouchy

    Clinical Genetics
    |March 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    Trisomy 6qter, a rare genetic condition, results in severe developmental delays and distinct facial features. Despite significant challenges, individuals with this trisomy can survive into adulthood, often without major internal organ issues.

    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

    Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

    Human genetics·2016
    Same author

    Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

    Clinical genetics·2015
    Same author

    Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.

    European journal of medical genetics·2013
    Same author

    Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

    Clinical genetics·2012
    Same author

    19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

    Journal of medical genetics·2009
    Same author

    Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene.

    Clinical genetics·2007
    Same journal

    Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

    Clinical genetics·2026
    Same journal

    Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain.

    Clinical genetics·2026
    Same journal

    A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.

    Clinical genetics·2026
    Same journal

    From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy.

    Clinical genetics·2026
    Same journal

    Biallelic Variants in ATP1A4 Are Associated with Oligoasthenoteratozoospermia and Male Infertility.

    Clinical genetics·2026
    Same journal

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

    Clinical genetics·2026
    See all related articles

    Area of Science:

    • Genetics
    • Human Biology
    • Medical Science

    Background:

    • Trisomy refers to the presence of an extra chromosome.
    • Distal 6q trisomy involves an extra copy of the terminal portion of the long arm of chromosome 6.
    • This condition has been reported in a limited number of cases, making each new case significant for understanding the syndrome.

    Observation:

    • A patient previously identified with distal 6q trisomy was confirmed via R-banding to have trisomy for the 6q26qter region.
    • This specific chromosomal abnormality resulted from a maternal translocation, t(6;22)(q26;p12).
    • This brings the total reported cases of 6qter trisomy to nine.

    Findings:

    • The 6qter trisomy syndrome is characterized by severe intellectual disability and growth retardation.

    Related Experiment Videos

  • Craniofacial anomalies include acrocephaly (tall, narrow head) and brachycephaly (short, broad head), a carp-shaped mouth, and micrognathia (small jaw).
  • Other features include a very short neck with anterior webbing and joint contractures, with a notable absence of severe visceral malformations.

    • Implications:

    • Understanding the specific phenotype associated with 6qter trisomy aids in genetic counseling and clinical management.
    • The survival into adulthood observed in these patients suggests potential for long-term care and support strategies.
    • Further research into the genetic mechanisms and phenotypic variability of distal 6q trisomy is warranted.