The relationship of some of the genes within the deleted region of 11q is considered in the context of the developmental anomalies presented in this patient. [ncbi.nlm.nih.gov]

• Disability

  To read the full version of this content please select one of the options below: Alice Shelton (Department of Intellectual Disability, Leicestershire Partnership Trust, Leicester, UK) Samuel Joseph Tromans (Department of Intellectual Disability, Leicestershire [emerald.com]

  […] for a rare disease Disease definition Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability [orpha.net]

  The model hopes to change society's view of people with disabilities, and create a change that will result in more opportunities for those with impairments. [dailymail.co.uk]

  Intelligence may be normal, although the person may have a learning disability. Birth defects of the urinary tract may be present. [medlineplus.gov]

  Ten children attended a mainstream school (with remedial assistance), eight were placed in a school for children with learning disabilities, nine children attended other special schools. [cambridge.org]

• Short Stature

  stature, low weightClinodactylyPMDD–46,XX,r(11)(p15q25); chromosome instability; and father with normal karyotypePatient 2: 33 years/F (mother of patients nos 1 and 3)– Cafe au lait spotMicrocephaly, short stature–Low IQ–46,XX,r(11)(p15q25); chromosome [edmcasereports.com]

  A karyotype study should be performed in patients with short stature and facial dysmorphism. [ncbi.nlm.nih.gov]

• Tall Stature

  Berberian Syndrome + burning mouth syndrome + Buschke-Ollendorff Syndrome CAHMR Syndrome Calabro Syndrome Camera Marugo Cohen Syndrome CAMFAK Syndrome camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camptodactyly-Ichthyosis Syndrome camptodactyly-tall [rgd.mcw.edu]

• Congestive Heart Failure

  Case presentation We report a case of a 78 year old female with a medical history of hypertension and congestive heart failure. She was status post pacemaker and defibrillator implantation from an unknown date. [hoajonline.com]

• Dyspnea

  The patient presented to an outside hospital with complaints of sudden retrosternal chest pain radiating to the back, shortness of breath, and exertional dyspnea. She also had progressive fatigue for two weeks. [hoajonline.com]

• Short Arm

  No loss of chromosomal material in the ring; FISH revealed that both the short-arm and long-arm specific subtelomeric regions for 11p and 11q were preserved in the RC and parents with normal karyotype (10) Neonatal/M–––FD, dysplastic featuresGeneralized [edmcasereports.com]

  arm of chromosome 4 Q93.4 Deletion of short arm of chromosome 5 Q93.5 Other deletions of part of a chromosome Q93.59 Other deletions of part of a chromosome Q93.7 Deletions with other complex rearrangements Q93.8 Other deletions from the autosomes Q93.81 [icd10data.com]

  Cases shown in a–d exhibit labeling of the long arm of chromosome 18 only, while case e shows labeling of the short arm and most of the proximal long arm of chromosome 18 as well as the distal part of the long arm of chromosome 8. [jimmunol.org]

  The features of Potocki-Shaffer syndrome result from the loss of several genes on the short arm of chromosome 11. [medlineplus.gov]

• Osteoporosis

  Opsoclonus-Myoclonus Syndrome + Optic Atrophy Spastic Paraplegia Syndrome ornithine translocase deficiency orofaciodigital syndrome + Orstavik Lindemann Solberg Syndrome Osebold Skeletal Dysplasia Osteolysis Syndrome Oslam syndrome Osteopenic Nonfracture Syndrome osteoporosis-pseudoglioma [rgd.mcw.edu]

• Psychomotor Retardation

  Postnatal growth retardation was seen in nearly 50% of the reported cases. [3-5] We present a female infant with extreme somatic retardation and mild psychomotor retardation, in whom mosaicism of ring chromosome 14 and chromosome monosomy 14 were found [wjpch.com]

  The clinical variability of fourteen r(Jeny6) individuals when reviewed was shown to include growth failure, psychomotor retardation, eye and facial abnormalities and abnormal head size, features dependent on the extent of the deletion and the stability [tp.amegroups.com]

• Denial

  The range of emotion a woman might go through include denial, guilt, anger, depression, envy and yearning. Mrs. [photoinfo.fr]

• Poor or Absent Speech

  Matalon et al. (1990) reported a family in which a mother who was mosaic for a ring chromosome 14 transmitted it to her 2 sons, both of whom had severe mental retardation with poor or absent speech, infantile-onset seizures, and dysmorphic facial features [omim.org]

Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care. [kjp.or.kr]

This paper describes the presentation of r(20) syndrome in a young woman with moderate ID and treatment-resistant epilepsy, who experiences psychotic symptoms at times of improved seizure control. [emeraldinsight.com]

The role of other unconventional treatments of epilepsy is not established for the treatment of r(20) syndrome20 23, 24 ,25 The long term outcome of the syndrome is not known. [ring20researchsupport.co.uk]

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]

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

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

Interestingly, leukemia with translocations involving MLL shows poor prognosis. [scielo.br]

The present case with three times of IPSS-R complex aberrations is expected to exhibit very poor prognosis and faster transformation to AML. [cancerjournal.net]

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]

[…] 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]

With more widespread cytogenetic chromosomal karyotyping in non-etiological cases of epilepsy, more cases of r(20) will undoubtedly be recognized. [content.iospress.com]

In recognition of their unifying molecular etiology, the conditions previously known as velocardiofacial syndrome, DiGeorge syndrome, Shprintzen syndrome, and conotruncal anomaly face syndrome have been grouped into what is now termed the “22q11.2 deletion [pedsinreview.aappublications.org]

Failure of growth in weight, length, and head circumference starting at birth, suggesting an organic etiology that occurred in utero. [emedicine.medscape.com]

However, with more widespread cytogenetic chromosomal karyotyping in non-etiological cases of epilepsy, more cases of r(20) will undoubtedly be recognized.(1,2,3 ) Epilepsy Epilepsy is a constant feature of this syndrome and in many cases is intractable [ring20researchsupport.co.uk]

The etiology of epilepsy in r20 syndrome has not been elucidated. [ng.neurology.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]

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]

Epidemiology Frequency International Estimates of incidence range from as high as 1 case in 3000 population to as low as 1 case in 100,000 population. [emedicine.medscape.com]

Epidemiology of adult acute myeloid leukemia: Impact of exposures on clinical phenotypes and outcomes after therapy. Cancer Epidemiol. 2015;39(6):1084-92. [ Links ] 36. Larsson SC, Wolk A. [scielo.br]

[…] hypomethylation in the chromosome 11p15 imprinting center 1 (IC1); some patients have maternal uniparental disomy of chromosome 7, with the possibility of imprinting (eg, inheriting two copies of maternal chromosome 7, with no paternal contribution). [3, 4, 5, 6] Pathophysiology [emedicine.medscape.com]

Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nat Rev Genet 2004; 5 : 725–738. 12 Korenberg JR, Chen XN, Schipper R, Sun Z et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. [nature.com]

Other treatments include: Making sure the person gets enough calories to prevent low blood sugar and promote growth Physical therapy to improve muscle tone Educational assistance to address learning disabilities and attention deficit problems the child [medlineplus.gov]

[…] 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]

[…] to 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]

Often, there's nothing you can do to prevent a miscarriage. [photoinfo.fr]

Left-sided obstructive lesions are defects that prevent the adequate blood flow from the heart. [rarediseases.org]