alexa Monosomy 1p36.
Cardiology

Cardiology

Journal of Clinical & Experimental Cardiology

Author(s): Slavotinek A, Shaffer LG, Shapira SK

Abstract Share this page

Abstract We have reviewed published reports on patients with segmental aneusomy for chromosome 1p36 to help geneticists and other health professionals in the recognition of this emerging chromosomal syndrome. Terminal deletions of the short arm of chromosome 1 are associated with hypotonia and developmental delay (usually severe), growth abnormalities (growth retardation, microcephaly, obesity), and craniofacial dysmorphism with a large anterior fontanelle, prominent forehead, deep set eyes, flat nasal bridge and midface hypoplasia, ear asymmetry, a pointed chin, and orofacial clefting. Minor cardiac malformations, cardiomyopathy, seizures, and ventricular dilatation are the more common additional findings. Sensorineural hearing loss and variable ophthalmological anomalies have also been frequently observed. Although the deletions can be detected by high resolution cytogenetic studies, confirmation by fluorescence in situ hybridisation is required in most cases. The majority of deletions are maternally derived. Molecular characterisation of 1p36 deletions has been undertaken in several cases, and it is likely that this condition is a contiguous gene deletion syndrome.
This article was published in J Med Genet and referenced in Journal of Clinical & Experimental Cardiology

Relevant Expert PPTs

Relevant Speaker PPTs

  • Donald silverberg
    Is correction of iron deficiency a new addition to the treatment of heart failure?
    PPT Version | PDF Version
  • Ahmed Zeidan
    Effects of intravenous iron in chronic kidney disease and heart failure
    PPT Version | PDF Version
  • Mapitsi S Thantsha
    In vitro antagonistic effects of Listeria adhesion protein (LAP)-expressing Lactobacillus casei against Listeria monocytogenes and Salmonella Typhimurium Copenhagen
    PPT Version | PDF Version
  • Ming Yang
    Generation, characterization and application of monoclonal antibodies against foot-and-mouth disease virus serotype A
    PPT Version | PDF Version
  • Jan Voskuil
    How antibodies can prevent medical progress and how they can be great tools?
    PPT Version | PDF Version
  • Mikael Bjerg Caspersen
    Innovative albumin based technology for half-life extension and optimization of Biotherapeutics
    PPT Version | PDF Version
  • Suzi Demirbag
    Indications and effectiveness of the open surgery in vesicoureteral refl ux
    PPT Version | PDF Version
  • Ekaterina Rogaeva
    Mutation analysis of CHCHD10 in neurodegenerative diseases, including Parkinson’s disease
    PPT Version | PDF Version
  • Alexandra Vatsiou
    Pathways and genes under positive selection in metabolic diseases
    PPT Version | PDF Version
  • Yosef Yarden
    Classically, the 3’untranslated region (3’UTR) is that region in eukaryotic protein-coding genes from the translation termination codon to the polyA signal. It is transcribed as an integral part of the mRNA encoded by the gene. However, there exists another kind of RNA, which consists of the 3’UTR alone, without all other elements in mRNA such as 5’UTR and coding region. The importance of independent 3’UTR RNA (referred as I3’UTR) was prompted by results of artificially introducing such RNA species into malignant mammalian cells. Since 1991, we found that the middle part of the 3’UTR of the human nuclear factor for interleukin-6 (NF-IL6) or C/EBP gene exerted tumor suppression effect in vivo. Our subsequent studies showed that transfection of C/EBP 3’UTR led to down-regulation of several genes favorable for malignancy and to up-regulation of some genes favorable for phenotypic reversion. Also, it was shown that the sequences near the termini of the C/EBP 3’UTR were important for its tumor suppression activity. Then, the C/EBP 3’UTR was found to directly inhibit the phosphorylation activity of protein kinase CPKC in SMMC-7721, a hepatocarcinoma cell line. Recently, an AU-rich region in the C/EBP 3’UTR was found also to be responsible for its tumor suppression. Recently we have also found evidence that the independent C/EBP 3’UTR RNA is actually exists in human tissues, such as fetal liver and heart, pregnant uterus, senescent fibroblasts etc. Through 1990’s to 2000’s, world scientists found several 3’UTR RNAs that functioned as artificial independent RNAs in cancer cells and resulted in tumor suppression. Interestingly, majority of genes for these RNAs have promoter-like structures in their 3’UTR regions, although the existence of their transcribed products as independent 3’UTR RNAs is still to be confirmed. Our studies indicate that the independent 3’UTR RNA is a novel non-coding RNA species whose function should be the regulation not of the expression of their original mRNA, but of some essential life activities of the cell as a whole.
    PPT Version | PDF Version
  • Inga Zemite
    Fungal diseases of the scalp skin in the trichologist practice
    PPT Version | PDF Version
  • Juan Manuel Navarrete
    “Juan Manuel Navarrete-National-University-of-México-Mexico-Fulvi-H-as-posible-treatment-for-viral-diseases”
    PPT Version | PDF Version
  • Sariya Mohammadi
    Case Series Of Rare Breast Diseases And Their Unusual Presentation
    PPT Version | PDF Version
  • David Jamil Hadad
    METHODOLOGY TO COLLECT SPUTUM SPECIMENS
    PPT Version | PDF Version
  • Ferdinand N Mbagwu
    Ethnomedical studies of plants used for treatment of diseases in eastern part of Nigeria
    PPT Version | PDF Version

Recommended Conferences

Relevant Topics

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords