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Ring Chromosome 22

Presentation

To present the prenatal diagnosis and perinatal findings of mosaic ring chromosome 22. Amniocentesis was performed at 18 gestational weeks because of an advanced maternal age. [ncbi.nlm.nih.gov]

[…] if the condition was present at the time of inpatient admission. [icd.codes]

Neurologic

  • Excitement

    Previously published case reports describing behavioural problems associated with this chromosome disorder suggest that severe hyperactivity is typical and that affected individuals may have an excited mood state. [ncbi.nlm.nih.gov]

Treatment

Although it is considered a treatment for Ring 22 syndrome, people are still not sure if it is a definite cure for the disorder. [ed.ted.com]

Kenneth Aitken demystifies the umbrella term 'autism' by alphabetically listing these conditions along with information about how common they are, their causes, signs, and symptoms, and for many, appropriate methods of treatment and management. [books.google.de]

Basically, treatment is dependent upon the specific symptoms seen in any given child. [chw.org]

Prognosis

Prognosis: The life expectancy for a person with ring 22 is normal if their serious health conditions like seizures are taken care of. [ed.ted.com]

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

Imaging is suggested for SMARCB1 mutation carriers from birth until four to six years of age for early detection and improved prognosis. Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. [ashg.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]

Genetic services offer families who have experienced a birth problem (including the 22q11.2 deletion) valuable information, including: Information about the problem's cause Your chances of having another child with the same problem Information about prognosis [chop.edu]

Etiology

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. 2006;140(22):2416-25. [medicalhomeportal.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]

Prevention

[…] 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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