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]
Entire Body System
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Turkish
As far as we know this is the first reported Turkish patient in the literature. [ncbi.nlm.nih.gov]
Ears
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Macrotia
Long face Elongation of face Increased height of face Increased length of face Vertical elongation of face Vertical enlargement of face Vertical overgrowth of face [ more ] 0000276 Lymphedema Swelling caused by excess lymph fluid under skin 0001004 Macrotia [rarediseases.info.nih.gov]
Face, Head & Neck
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Thick Lips
lips [ more ] 0012471 Toenail dysplasia Abnormal toenail development 0100797 Wide nasal base Broad base of nose Broad nasal base Increased width of base of nose Increased width of nasal base Wide base of nose [ more ] 0012810 5%-29% of people have these [rarediseases.info.nih.gov]
Note long face, large ears, full brow, prominent nasal bridge, long and bulbous nose, short philtrum, asymmetric mouth, thick lips. Bottom, Subject P33 in infancy (K), adolescence (L) and frontal (M) and lateral (N) views at the age of 41 years. [journals.plos.org]
Neurologic
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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]
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]
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]
[…] 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]
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]
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]