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Ring Chromosome 4

Chromosome 4 Ring Syndrome


Presentation

  • We describe a case with r(4) in a girl who presented without features of WHS; she had mild developmental delay, deafness, short stature, obesity, and the onset of type 2 diabetes in adolescence, a distinctive phenotype.[ncbi.nlm.nih.gov]
Turkish
  • Abstract We present the clinical and molecular findings in a Turkish child with a de novo mosaic ring derived from chromosome 4 with multiple cell-lines; the karyotype was 46,XY,r(4)[83]/45,XY, -4[6]/47,XY,r(4), r(4)[5]/48,XY,r(4), r(4), dic r(4)[1]/46[ncbi.nlm.nih.gov]
Failure to Thrive
  • Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay. Korean J Pediatr 2008;51:426–430. 9. Jung YK, Lee GH. A case of ring chromosome 20 with mental retardation and epilepsy.[synapse.koreamed.org]
  • Human Genetics 85,138-139. 17 Kousseff B.G.(1980) Ring chromosome 15 and failure to thrive. American Journal of Diseases of Children 134,798-9. Ledbetter D.H.,Riccardi V.M.,Au W.W.[yumpu.com]
  • […] to thrive Highly arched palate Bilateral hydronephrosis Delayed gross motor skills Mechanisms of ring formation [ edit ] By two DNA breaks, one in each arm of the same chromosome, followed by fusion of the proximal broken ends.[en.wikibooks.org]
  • 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]
Beaked Nose
  • Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe retardation, usually thought to be inherited as an autosomal recessive condition[ncbi.nlm.nih.gov]
  • * Retarded ossification * Seizures * Oliogmeganephronia * Epispadias * Undescended testes * Growth retardation * Speech retardation * Mental retardation * Feeding difficulty Causes - Chromosome 4 ring syndrome * Beaked nose * Cataract * Cleft palate[checkorphan.org]
  • " nose; and/or various additional physical abnormalities that are present at birth (congenital anomalies).[healthmedicinet.com]
Beak Nose
  • Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe retardation, usually thought to be inherited as an autosomal recessive condition[ncbi.nlm.nih.gov]
  • * Retarded ossification * Seizures * Oliogmeganephronia * Epispadias * Undescended testes * Growth retardation * Speech retardation * Mental retardation * Feeding difficulty Causes - Chromosome 4 ring syndrome * Beaked nose * Cataract * Cleft palate[checkorphan.org]
  • " nose; and/or various additional physical abnormalities that are present at birth (congenital anomalies).[healthmedicinet.com]
Beaked Nose
  • Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe retardation, usually thought to be inherited as an autosomal recessive condition[ncbi.nlm.nih.gov]
  • * Retarded ossification * Seizures * Oliogmeganephronia * Epispadias * Undescended testes * Growth retardation * Speech retardation * Mental retardation * Feeding difficulty Causes - Chromosome 4 ring syndrome * Beaked nose * Cataract * Cleft palate[checkorphan.org]
  • " nose; and/or various additional physical abnormalities that are present at birth (congenital anomalies).[healthmedicinet.com]
Mydriasis
  • الصفحة 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‏[books.google.com]

Treatment

  • And are described in this study analyzing their clinical characteristics, medical or surgical treatments in multidisciplinary manner.[ideas.repec.org]
  • Typically the seizures are resistant to treatment with anti-epileptic drugs.[en.wikipedia.org]
  • Treatment - Chromosome 4 ring syndrome Not supplied. Resources - Chromosome 4 ring syndrome Not supplied.[checkorphan.org]
  • Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services.[rarediseases.info.nih.gov]
  • The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature.[healthmedicinet.com]

Prognosis

  • Prognosis - Chromosome 4 ring syndrome Not supplied. Treatment - Chromosome 4 ring syndrome Not supplied. Resources - Chromosome 4 ring syndrome Not supplied.[checkorphan.org]
  • MLL) can occur in acute myeloid leukemia cases and are associated with a poor prognosis in all leukemias.[hoajonline.com]
  • The delineation of such genetic alterations that occur in breast cancer may be important for both early detection and prognosis.[cancerres.aacrjournals.org]
  • […] 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]
  • Variation in the size of ring, as well as distribution of mosaicism in different organs, may influence prognosis. Conclusion The mosaicism for a chromosomal anomaly is an under-recognised cause of intellectual disability.[slideshare.net]

Etiology

  • The etiology of Wolf-Hirschhorn syndrome. Trends Genet 2005;21:188–195. 4. Rauch A, Schellmoser S, Kraus C, Dorr HG, Trautmann U, Altherr MR, et al.[synapse.koreamed.org]
  • Etiology of Chromosome Abnormalities [ edit part ] Etiology of chromosome abnormalities is pretty variable. The most often reason is mistake which occurs during the cell division.[wikilectures.eu]
  • Karyotype assessment is important to consider in all epilepsies where the etiology is uncertain as dysmorphic features may be subtle or not apparent. Karyotype examination should be extended to 50-100 mitoses to exclude mosaicism.[epilepsydiagnosis.org]
  • Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies. Blood. 2004; 103 :229-35. Article PubMed[hoajonline.com]

Epidemiology

  • Carey, The Importance of Case Reports in Advancing Scientific Knowledge of Rare Diseases, Rare Diseases Epidemiology, 10.1007/978-90-481-9485-8_5, (77-86), (2010).[doi.org]
  • Carbamazepine) 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. [2] Epidemiology[en.wikipedia.org]
  • 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

  • Feeding difficulty * Growth retardation * Highly arched palate * Hip dislocation * Large ears * Large nose * Mental retardation * Preauricular tags * Reduced muscle tone * Scoliosis * Seizures * Short philtrum * Small head * Small jaw * Speech retardation Prevention[checkorphan.org]
  • […] ascertain a diagnosis of the condition: [2] MRI EEG Management [ edit ] [8] A type of anticonvulsant(Carbamazepine) In terms of the management of ring chromosome 14 syndrome, anticonvulsive medication for seizures, as well as, proper therapy to help prevent[en.wikipedia.org]
  • Because we are not sure about the origin of abnormalities, it is hard to recommend any prevention. Sometimes it is said that the folic acid has a positive role in prevention of congenital abnormalities.[wikilectures.eu]
  • Out of 123 genes that were found to be recurrently amplified and overexpressed, at least 25 have been reported to positively regulate proliferation, promote cell growth and/or prevent apoptosis.[academic.oup.com]
  • […] 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]

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