At 5 years of age he had surgery for a divergent strabismus, a feature also present in his mother and sister in childhood. There was no facial dysmorphism. Some minor dysmorphic features were present (table 1 ). [jmg.bmj.com]

Treatment for ring chromosome 18 depends on the signs and symptoms present in each person. Last updated: 6/21/2018 [rarediseases.info.nih.gov]

Presentation of Case: Female, Caucasian, born in Southeast of Brazil, 6 years old. [sciencedomain.org]

We describe a 50-year-old male patient who had originally presented with pancytopenia in October 1992. [ncbi.nlm.nih.gov]

Finally, in humans, chromosome 2 telomeres are present at both the centre and the ends, whereas usually telomeres are only found at the ends of a chromosome. [news-medical.net]

• Splenomegaly

  A 59-year-old female presented with pancytopenia and splenomegaly. Bone marrow was normocellular with 30.4% abnormal large lymphoid cells that were positive for CD5, CD19, CD20, HLA-DR and λ chain. [jlc.jst.go.jp]

• Normal Stature

  She had normal stature, head circumference, and deep tendon reflexes ( Figure 1 ). Hearing screen, electrocardiography, echocardiography, abdominal ultrasound and ophthalmologic examination were normal. [omicsonline.org]

• Clitoromegaly

  […] hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome size; no apparent loss of chromosome material; minimal instability of chromosome constitution; and parents with normal karyotype (2) 2 months/FMild hirsutism, clitoromegaly [edmcasereports.com]

• Babinski Sign

  (1) 4 years/FHypothyroidism Cafe au lait spotMicrocephaly, short stature, and growth delayMinimally dysplastic featuresBehavioral disorders, mild retardation, PMDD hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome [edmcasereports.com]

  The patient was referred to our Unit because of persistent thrombocytopenia and syndactyly, pes planus and a bilateral Babinski sign. The remainder of physical examination revealed curly hair, thin upper lip, broad nasal bridge and tip. [omicsonline.org]

• Global Developmental Delay

  developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. [orpha.net]

  Case reports PATIENT A This boy was referred at 8 years of age because of global developmental delay. His mother was hospitalised for the last 14 weeks of pregnancy because of pre-eclampsia. [jmg.bmj.com]

• Clonus

  (1) 4 years/FHypothyroidism Cafe au lait spotMicrocephaly, short stature, and growth delayMinimally dysplastic featuresBehavioral disorders, mild retardation, PMDD hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome [edmcasereports.com]

Standard Therapies Treatment The treatment of Chromosome 15 Ring is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment - Chromosome 1 ring Not supplied. Resources - Chromosome 1 ring Not supplied. [checkorphan.org]

Treatment for ring chromosome 18 depends on the signs and symptoms present in each person. Last updated: 6/21/2018 [rarediseases.info.nih.gov]

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]

With the ring chromosome 1 we also describe a rare cytogenetic abnormality that predicted the poor prognosis of the patient, but the patient could be cured by adoptive immunotherapy and the application of donor's PB-SC. [ncbi.nlm.nih.gov]

Prognosis - Chromosome 1 ring Not supplied. Treatment - Chromosome 1 ring Not supplied. Resources - Chromosome 1 ring Not supplied. [checkorphan.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]

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]

Ten to fifteen percent of people with 18p- have holoprosencephaly, suggesting that other genetic and environmental facts play a role in the etiology of holoprosencephaly in these individuals. [en.wikipedia.org]

Management 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. [7] Epidemiology [checkrare.com]

Proceedings of the second international molecular pathological epidemiology (MPE) meeting. Cancer Causes Control. 2015;26: 959–972. pmid:25956270 View Article PubMed/NCBI Google Scholar [journals.plos.org]

Prevention - Chromosome 1 ring Not supplied. [checkorphan.org]

[…] karyotyping ; [8] while once born, one can do the following to ascertain a diagnosis of the condition: [7] MRI EEG Management In terms of the management of ring chromosome 14 syndrome, anticonvulsive medication for seizures, as well as, proper therapy to help prevent [checkrare.com]

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]

There is also some evidence showing the effect of dietary compounds in preventing DNA damage [ 12, 31, 32 ]. [journals.plos.org]

In addition, for individuals with low levels of certain antibodies (e.g., IgA), disease management includes ongoing monitoring and appropriate, supportive measures to help prevent and aggressively treat infections. [rarediseases.org]