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]

• Failure to Thrive

  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. [yumpu.com]

  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]

  […] growth failure is more common among patients with large ring chromosomes, than among those with small ones (Kosztolanyi 1987). [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]

• Psychomotor Retardation

  The patient presented extreme growth failure, psychomotor retardation, and some features of 4p deletion or Wolf syndrome. No significant loss of genetic material could be seen by G-banding technique (breakpoints p16q35). [ncbi.nlm.nih.gov]

  retardation, myoclonic syndrome and extreme photosensitivity. [thieme-connect.com]

  Some affected infants may have a low birth weight; growth retardation; delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation); an abnormally small head (microcephaly); a broad, "beaked [informationtherapy.in]

• 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]

  * Beaked nose * Short philtrum * Epicanthal folds * Highly arched palate * Cleft palate * Tooth enamel hypoplasia * Clinodactyly * Thumb aplasia * Thumb hypoplasia * Abnormal palmar creases * Hip dislocation * Radial agenesis * Scoliosis * Reduced muscle [checkorphan.org]

  " nose; and/or various additional physical abnormalities that are present at birth (congenital anomalies). [informationtherapy.in]

• Focal Seizure

  Epileptic spasms, atypical absences and focal seizures may also occur. [epilepsydiagnosis.org]

• Encephalopathy

  These two epilepsy syndromes have clinical similarities to RC20 syndrome and are characterized by frequent seizures, decline in learning ability and behavior and are often termed as cognitive epileptic encephalopathies. [epilepsy.com]

• Nystagmus

  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]

• Confusion

  Seizures may manifest as prolonged confusional states, lasting minutes to half an hour, during which the patient may be motionless and staring or may have automatisms and confused wandering. [epilepsydiagnosis.org]

Management and Treatment Since seizures with RC20 syndrome are typically difficult to treat, seizure control is very important. Every case is different and complex. [epilepsy.com]

Typically the seizures are resistant to treatment with anti-epileptic drugs. [en.wikipedia.org]

“There still remains a risk, but the findings may lead to the development of breakthrough treatment for chromosomal abnormalities.” [stemcellassays.com]

Treatment - Chromosome 4 ring syndrome Not supplied. Resources - Chromosome 4 ring syndrome Not supplied. [checkorphan.org]

And are described in this study analyzing their clinical characteristics, medical or surgical treatments in multidisciplinary manner. [ideas.repec.org]

MLL) can occur in acute myeloid leukemia cases and are associated with a poor prognosis in all leukemias. [hoajonline.com]

Prognosis - Chromosome 4 ring syndrome Not supplied. Treatment - Chromosome 4 ring syndrome Not supplied. Resources - Chromosome 4 ring syndrome Not supplied. [checkorphan.org]

However, the cultured tumors (when compared to noncultured tumors) had several features indicating that they were derived from a subset of aggressive tumors having a poor prognosis (28). [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 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]

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]

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]

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]

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]

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]

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]

[…] 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]

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]