Symptoma

Ring Chromosome 13

Chromosome 13 Ring Syndrome

By FISH, the Rb gene was present on the normal 13, the proximally derived ring chromosome, but not on the derivative chromosome. [ncbi.nlm.nih.gov]

These chromosomes can frequently divide during mitosis or meiosis, although they usually degenerate. 22 Despite the clear characterisation of the molecular alteration and clinical presentations, we have not found any other described patient presenting [easap.asia]

  • Goiter

    In the literature, two cases of partial monosomy 13 have been reported in adenomatous goiters, suggesting that this abnormality characterizes a rare but distinct subgroup of benign thyroid lesions histologically presenting as adenomatous goiters. [ncbi.nlm.nih.gov]

    23661454 ) Su P.H....Chen J.Y. 2013 12 Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients. ( 27625853 ) Abdallah-Bouhjar I.B....Elghezal H. 2013 13 Monosomy and ring chromosome 13 in a thyroid nodular goiter-do [malacards.org]

  • Overeating

    Strube OUP USA, ٢٧‏/٠٩‏/٢٠١٢ - 1386 من الصفحات For over the past ten years Pediatric Ophthalmology and Strabismus has become the leading textbook in the specialty of pediatric ophthalmology and strabismus. [books.google.com]

    CrossRef Google Scholar —: Evidence for sister-strand crossing-over in maize. Genetics 38, 251–260 (1953). PubMed PubMedCentral Google Scholar Schwartz, D. : Studies on the mechanism of crossing-over. Genetics 39, 692–700 (1954). [springerlink.com]

    Deletions• May arise through unequal crossing over A B C D E F G x A B C D E F G A B C D E G A B C D E F F G Deletion Duplication 19. INSERTION 27 20. Insertion 28 21. Insertion& Duplication 29 22. INVERSION 30 23. [slideshare.net]

    I have had so much fun designing and making wheelchair-costume kits for kids all over the country.” 3. Rock lobster Jenna Stoddard, 8, in her lobster costume. [today.com]

    Save over 20% compared to the individual article price. [karger.com]

  • Failure to Thrive

    Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):812-815. [ssmc-tl.com]

    Over the years, Avery has also had additional diagnosis' of microcephaly (small head), Cerebral Palsy (due to areas of low and high tone in her muscles), failure to thrive (due to weight loss at 1 year of age), Partial Seizures (controlled by medication [chromosome13deletion.com]

    Without treatment babies develop chest infections and often have very serious failure to thrive. Early institution of treatment greatly improves the health of babies with CF. [embryology.med.unsw.edu.au]

    They showed a phenotype consistent with the “ring syndrome” with failure to thrive, minor dysmporphic features and no major anomalies. [tp.amegroups.com]

  • Absent or Hypoplastic Thumbs

    […] thumbs * Hypoplastic thumbs * Big toes * Fused toes * Pes calcaneovalgus * Fusion of metacarpal bones * Brachydactyly * Syndactyly * Polydactyly * Oligodactyly * Clubfoot * Simian creases * Vertebral malformations * Pigmentation disorders * Alopecia [checkorphan.org]

  • Microphallus

    Abstract A five-year-old boy with psychomotor retardation, microcephaly, bilateral cataracts, hearing impairment and hypospadia with microphallus was found to have multiple cell lines from peripheral blood: 46,XY/46,XY, -13, r(13)/46, Xy, -13, dic r(13 [ncbi.nlm.nih.gov]

  • Gliosis

    Microscopic examination showed a detached retina with reactive gliosis and neovascularisation. [ncbi.nlm.nih.gov]

    Magnetic resonance scan of the brain showed periventricular white matter and left cortical-subcortical regional alterations, suggesting degenerative changes such as gliosis, leucoenceph- alopathy, or myelinisation delay, as well as lateral ventricular [easap.asia]

Treatment for ring chromosome 13 depends on the signs and symptoms present in each person. Last updated: 6/21/2018 [rarediseases.info.nih.gov]

Treatment - Chromosome 13 ring Not supplied. Resources - Chromosome 13 ring Not supplied. [checkorphan.org]

Both pediatric patients with these genetic diseases are described in this study analyzing their clinical characteristics, medical or surgical treatments according to the phenotypic alterations. [ideas.repec.org]

In some cases, treatment may include surgical repair of certain malformations. [rarediseases.org]

[…] classification of these conditions, possible only through a comparative analysis of a large number of samples, will lead to an improved understanding of these symptoms for families and clinicians, and will also facilitate the development of more effective treatments [ring14.org]

Prognosis - Chromosome 13 ring Not supplied. Treatment - Chromosome 13 ring Not supplied. Resources - Chromosome 13 ring Not supplied. [checkorphan.org]

Further detailed and accurate descriptions of mental development are urgently needed in order to extend the knowledge on their long term mental prognosis. [matsuishi-lab.org]

Although little is known about its etiology, there is interesting evidence for a genetic cause for the ring chromosome 13. [content.iospress.com]

Battaglia A, Carey J: Etiologic yield of autistic spectrum disorders: a prospective study. Am J Med Genet C Semin Med Genet 142C:3-7 (2006). [karger.com]

The etiologic roles of rare disorders. Am J Psychiatry 1990;147:1614-1621. Bolton P, Rutter M. Genetic influences in autism. Int Rev Psychiatr 1990;2:67-80. Kerbeshian J, Burd L, Randall T, et al. [easap.asia]

Duchan E, Patel DR: Epidemiology of autism spectrum disorders. Pediatr Clin North Am 59:27-43 (2012). [karger.com]

The UCLA-University of Utah Epidemiological Survey of Autism. The etiologic roles of rare disorders. Am J Psychiatry 1990;147:1614-1621. Bolton P, Rutter M. Genetic influences in autism. Int Rev Psychiatr 1990;2:67-80. [easap.asia]

Management In terms of the management of ring chromosome 14 syndrome, anticonvulsive medication for seizures, as well as, proper therapy to help prevent respiratory infections in the affected individual are management measures that can be taken. [7] Epidemiology [checkrare.com]

Williams-Beuren Syndrome Duchenne Muscular Dystrolphy Cleft Palate and Lip International Classification of Diseases The International Classification of Diseases (ICD) World Health Organization's classification used worldwide as the standard diagnostic tool for epidemiology [embryology.med.unsw.edu.au]

الصفحة 234 - Centers for Disease Control and Prevention: 1994 Revised Classification System for Human Immunodeficiency Virus Infection in Children Less Than 13 Years of Age, MMWR, 43, 1-19, No. ‏ [books.google.com]

Prevention - Chromosome 13 ring Not supplied. [checkorphan.org]

Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention [aboutkidshealth.ca]

[…] karyotyping ; [8] while once born, one can do the following to ascertain a diagnosis of the condition: [7] MRI EEG Management In terms of the management of ring chromosome 14 syndrome, anticonvulsive medication for seizures, as well as, proper therapy to help prevent [checkrare.com]

Drugs such as digoxin may help to prevent irregular heartbeats and excessively rapid heartbeats (tachycardia). [rarediseases.org]