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Ring Chromosome 1


Presentation

  • 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]
  • Mosaicism was present in all three cases in different degrees, i.e. 48%, 25% and 14% of the cells, respectively. Clinical signs and symptoms vary between the three cases. The results of our three cases are compared with those from the literature.[ncbi.nlm.nih.gov]
  • Treatment for ring chromosome 18 depends on the signs and symptoms present in each person. Last updated: 6/21/2018[rarediseases.info.nih.gov]
  • We describe a 50-year-old male patient who had originally presented with pancytopenia in October 1992.[ncbi.nlm.nih.gov]
  • Presentation of Case: Female, Caucasian, born in Southeast of Brazil, 6 years old.[sciencedomain.org]
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]
Atrial Septal Defect
  • Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Last updated: 7/30/2018 This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]
Weight Loss
  • He gained weight initially but subsequently diarrhoea and weight loss recurred and were not exacerbated by cessation of the supplement. Testing at various ages showed mild intellectual disability with verbal superior to performance skills.[jmg.bmj.com]
Arthritis
  • […] genes are involved, signs and symptoms that may be present in a person with ring chromosome 18 include ear and hearing abnormalities, abnormally-developed feet or hands, genital abnormalities in males, an increased risk to develop juvenile rheumatoid arthritis[rarediseases.info.nih.gov]
  • Other manifestations include hypotonia, foot deformation, proximally placed thumbs, arthritis/stenotic ear canals, long tapering digits, abnormal male genita-lia, flat midface, prominent antihelix antitragus and carp - shaped mouth ( 4 ) as well as immunological[ncbi.nlm.nih.gov]
Small Hand
  • The clinical manifestations of ring chromo-some 18 patients are include microcephaly, mild to severe mental retardation, short stature, obesity, mi-cropenis, cryptorchidism, hypertelorism, epicanthic fold, microgenathia and small hands ( 7 ).[ncbi.nlm.nih.gov]
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]
Alopecia
  • […] cells, and in two out of 27 cells the RC appeared to be doubled; and parents' karyotypes unavailable (12) 5 years/F––Growth delay–PMDDWilms tumor46,XX,r(11)(p15.5q25)Present case report5 years/FPrecocious puberty, severe hirsutism amenorrhea, androgenic alopecia[edmcasereports.com]
  • .: Familial short arm deficiency of chromosome 18 concomitant with arrhinencephaly and alopecia congenita. Amer. J. hum. Genet. 17 , 410–419 (1965). Google Scholar Vaillaud, J.[link.springer.com]
Round Face
  • face Circular face Round facial appearance Round facial shape [ more ] 0000311 Telecanthus Corners of eye widely separated 0000506 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased[rarediseases.info.nih.gov]
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]
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]

Treatment

  • 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]
  • Standard Therapies Treatment The treatment of Chromosome 15 Ring is directed toward the specific symptoms that are apparent in each individual.[rarediseases.org]
  • 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]
  • Standard Therapies Treatment The treatment of Chromosome 18 Ring is directed toward the specific symptoms that are apparent in each individual.[rarediseases.org]

Prognosis

  • 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

  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Prevention

  • 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]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • 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]
  • ., IgA), disease management includes ongoing monitoring and appropriate, supportive measures to help prevent and aggressively treat infections. Early intervention may be important in ensuring that affected children reach their potential.[rarediseases.org]

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