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Ring Chromosome 9


Presentation

  • The typical facial dysmorphic features of 9p duplication, ascribed to trisomy of the band p22, were not present in this patient.[ncbi.nlm.nih.gov]
  • […] if the condition was present at the time of inpatient admission.[icd.codes]
Pathologist
  • ., Newdelhi, India 2 Chief Pathologist, Histopathology Department, National Reference Laboratory, Dr. Lal Path Labs. Pvt.[actamedicainternational.com]
Precocious Puberty
  • Puberty 148 XLMRHypotonic Facies Syndrome 27 Pseudohypoparathyroidism 149[books.google.com]
High Arched Palate
  • We examined in a newborn patient with trigonocephaly, upward-slanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis and broad eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal[ncbi.nlm.nih.gov]
Broad Eyebrows
  • We examined in a newborn patient with trigonocephaly, upward-slanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis and broad eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal[ncbi.nlm.nih.gov]

Treatment

  • Treatment - Chromosome 9 Ring Not supplied. Resources - Chromosome 9 Ring Chromosome 9 Ring is listed as a \"rare disease\" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).[checkorphan.org]
  • Chromosome testing of both parents can help determine whether the ring chromosome was inherited and whether future children have an increased chance to have a chromosome abnormality. [1] Treatment for ring chromosome 9 depends on the signs and symptoms[rarediseases.info.nih.gov]
  • 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]
  • Hungerford DA: Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl. Stain Technol 40:333-338 (1965).[karger.com]
  • Anti-epileptic drugs are the mainstay and first line of treatment; however no one drug or treatment has been shown to be better than others. Patients are frequently exposed to multiple anti-epileptic drugs.[epilepsy.com]

Prognosis

  • Prognosis - Chromosome 9 Ring Not supplied. Treatment - Chromosome 9 Ring Not supplied. Resources - Chromosome 9 Ring Chromosome 9 Ring is listed as a \"rare disease\" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).[checkorphan.org]
  • The present case with three times of IPSS-R complex aberrations is expected to exhibit very poor prognosis and faster transformation to AML.[cancerjournal.net]
  • […] are rare in occurrence supernumerary ring chromosomes often gradually disappear in vivo and only cells with normal karyotype are eventually observed (Michalski K et al. 1993 cited Hoo et al. 1980) not very many reports makes it difficult to predict prognosis[en.wikibooks.org]

Etiology

  • Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: coincidental findings or etiologic factor? J Craniofac Genet Dev Biol 2000 20 : 150–154 46 Milan C, Lamberti L.[nature.com]

Epidemiology

  • 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]
Sex distribution
Age distribution

Prevention

  • Prevention - Chromosome 9 Ring Not supplied. Diagnosis - Chromosome 9 Ring signs and symptoms of Chromosome 9 Ring may vary on an individual basis for each patient.[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]
  • […] ring chromosomes it has been demonstrated that the majority of children with rings show a failure to thrive beyond the extent expected from their chromosomal imbalances (Kosztolanyi 1987). suggested that this is due to the mitotic instability of rings, preventing[en.wikibooks.org]
  • Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP Am J Hum Genet 2018, 103(2): 221-231, doi: 10.1016/j.ajhg.2018.07.001 Relaxin Family Member Insulin-Like Peptide 6 Ameliorates Cardiac Fibrosis and Prevents[humangenetik-umg.de]
  • Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997-2009. Am. J. Med. Genet. A , 167A , 1071-81. PMID: 25711982 DOI .[embryology.med.unsw.edu.au]

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