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

[Distal 14q trisomy].

C Turleau, J de Grouchy, F Chavin-Colin

    Annales De Genetique
    |January 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

    This study identifies a rare genetic disorder, distal 14q trisomy, characterized by growth retardation and distinctive facial features. The findings help define this syndrome and its associated health 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

    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 author

    Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

    Human reproduction (Oxford, England)·2007
    Same journal

    Effect of 5637 conditioned medium (CM) on the mitotic index in the cytogenetic evaluation of myeloproliferative disorders.

    Annales de genetique·2004
    Same journal

    Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

    Annales de genetique·2004
    Same journal

    Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

    Annales de genetique·2004
    Same journal

    Large duplication 4q25-q34 with mild clinical effect.

    Annales de genetique·2004
    Same journal

    A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

    Annales de genetique·2004
    Same journal

    Partial trisomy 8q and partial monosomy 18p: a case report.

    Annales de genetique·2004
    See all related articles

    Area of Science:

    • Genetics
    • Clinical Dysmorphology
    • Human Molecular Genetics

    Background:

    • Trisomy, the presence of an extra chromosome, can lead to various genetic disorders.
    • Specific chromosomal abnormalities, such as distal 14q trisomy, result in unique phenotypic manifestations.
    • Understanding chromosomal aberrations is crucial for diagnosing and managing genetic conditions.

    Observation:

    • A 22-month-old male presented with trisomy for distal 14q, resulting from paternal translocation t(10;14)(q26.3;q32.1).
    • This case, along with seven previously reported instances, allowed for the delineation of a specific clinical syndrome.
    • The patient exhibited intrauterine and postnatal growth retardation, significant craniofacial dysmorphism, and organ malformations.

    Findings:

    • The delineated syndrome includes a large facies, hypertelorism, micrognathia, low-set ears, and high-set nipples.

    Related Experiment Videos

  • Additional features observed were short upper limbs, hypogenitalism in males, and internal organ defects (brain, lung, heart).
  • Cardiac defects were frequently associated with early mortality, highlighting the severity of this condition.

    • Implications:

    • The identified syndrome shares similarities with complete trisomy 14q, aiding in differential diagnosis.
    • This research contributes to the understanding of genotype-phenotype correlations in chromosomal abnormalities.
    • Further research can improve diagnostic accuracy and therapeutic strategies for patients with distal 14q trisomy.