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]

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

• 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]

• 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]

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

• Loss of Speech

  However, the hearing loss and speech delay that were found in our three patients have rarely been reported with ring chromosome 13. [content.iospress.com]

• 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]

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

Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: case report and review of the literature. Ultrasound Obstet Gynecol 1995; 6:368-71 9. Hadi HA, Strickland RT. [books.google.de]

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

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]

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

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]

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]

This is consistent with recent epidemiological findings showing no apparent difference between mother-to-offspring and father-to-offspring recurrence of clefts in these two populations. [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]

[…] 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]

Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997-2009. Am. J. Med. Genet. A, 167A, 1071-81. [embryology.med.unsw.edu.au]