A four-year-old boy with ring chromosome 17 presenting with early-onset, pharmacoresistant epilepsy underwent repeated 24-hour video-EEG monitoring and cytogenetic analyses, including fluorescent in situ hybridization with telomeric and locus-specific [ncbi.nlm.nih.gov]

Ring chromosome 17 syndrome Disease definition Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents [orpha.net]

Case report We present a 25-year-old boy, who presented 23 years ago with myoclonic seizure, learning disability, and developmental delay. There were no signs of dysmorphism or any skin lesions. CT scan of the head showed no definite abnormalities. [nature.com]

Orpha Number: 1441 Disease definition Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents [rarediseases.info.nih.gov]

• Inguinal Hernia

  hernias, hypospadias, cryptorchidism, hypotonia and other dysmorphic features including a large anterior fontanel, strabismus, malformed pinnae, broad nasal bridge and wide smooth philtrum. [ashg.org]

• Family History of Epilepsy

  There is no family history of epilepsy or any other neurological condition. She was born at term by natural delivery weighing 2.9 kg (10th percentile). Considering her height, she consistently remained below the 25th percentile. [karger.com]

• Single Transverse Palmar Crease

  Clinical features included profound psychomotor delay, growth failure, feeding difficulties, microcephaly, atrial septal defect, ventricular septal defect, small hands and feet, bilateral single transverse palmar creases, partial syndactyly of 3rd and [ashg.org]

• Pathologist

  As a matter of fact, the differential diagnosis between DP and diffuse neurofibroma located in the head and neck raises particular problems for the pathologist [3, 17]. [kundoc.com]

• Aspiration

  Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months. [adc.bmj.com]

  Spicules were not present on the aspirate or touch preparation. Flow cytometry showed a myeloid immunophenotype, with the presence of an intermediate to large sized myeloid blast cell population ( Figure 5 ). [hoajonline.com]

• Failure to Thrive

  Abstract A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. [adc.bmj.com]

  Investigators indicate that others with ring chromosome 4 may have few symptoms and be primarily affected by growth delays (failure to thrive), with no major physical anomalies. [rarediseases.org]

  Failure to thrive, feeding difficulties, seizures and decreased spontaneous activity are often seen. Death usually occurs in infancy and childhood. [en.wikipedia.org]

  They showed a phenotype consistent with the “ring syndrome” with failure to thrive, minor dysmporphic features and no major anomalies. [tp.amegroups.com]

• Tachycardia

  […] abnormalities, not elsewhere classified Q99.0 Chimera 46, XX/46, XY Q99.1 46, XX true hermaphrodite Q99.2 Fragile X chromosome Q99.8 Other specified chromosome abnormalities Q99.9 Chromosomal abnormality, unspecified R00 Abnormalities of heart beat R00.0 Tachycardia [icd10data.com]

• Hepatosplenomegaly

  She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. [adc.bmj.com]

  Case Report A 71 years elderly was presented with a history of weakness/fatigability/exertional breathlessness/fever/jaundice/progressive pallor/wet purpura/petechial spots without lymphadenopathy/hepatosplenomegaly/any co-morbidity. [cancerjournal.net]

• Retinal Pigmentation

  Fundoscopy revealed well-defined white foveal flecks at the level of retinal pigment epithelium in both eyes ( Figure 1 ). [nature.com]

  Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities (cataract, retinal pigmentation, macular abnormality) occur. [epilepsydiagnosis.org]

  Ring chromosome 14 The r(Jeny14) syndrome is characterized by a recognizable phenotype, consisting of distinct facial features, developmental delay, mental retardation, microcephaly, scoliosis and ocular anomalies that include abnormal retinal pigmentation [tp.amegroups.com]

• Skin Lesion

  There were no signs of dysmorphism or any skin lesions. CT scan of the head showed no definite abnormalities. No family history of seizures or visual problems were reported. Ocular examination at the age of 16 years revealed VA of 6/6 in both eyes. [nature.com]

  Novel Insights • The reported phenotype includes growth delay, intellectual disability, seizures, café-au-lait skin lesions, minor dysmorphism, and a flecked retina. [karger.com]

  XX, -7 [1]/ 46, XX [2] [lymphocytes] chronic myelomonocytic leukemia, growth & developmental delay, skin lesion p22 q36 5 year-old patient R(7): double ring chr. 7; Amouri et al., ESHG, 2005, #P0306 Edit 18 16737917 47, XX, r(7)(p22q36). ish(wcp7 , [chr7.org]

  Features of r(Jeny7) not apparent in this patient include mental retardation, facial asymmetry, limb and skeletal anomalies and skin lesions; haploinsufficiency of genes proximal to the subtelomeric regions were considered critical to the more severe [tp.amegroups.com]

• Small Hand

  Clinical features included profound psychomotor delay, growth failure, feeding difficulties, microcephaly, atrial septal defect, ventricular septal defect, small hands and feet, bilateral single transverse palmar creases, partial syndactyly of 3rd and [ashg.org]

• Short Fifth Finger

  fifth fingers with a mild degree of clinicodactyly, multiple café-aui-lait spots, and abnormal dermatoglyphics. [ncbi.nlm.nih.gov]

• Broad Nasal Bridge

  nasal bridge and wide smooth philtrum. [ashg.org]

  nasal bridge and other facial dysmorphism. [epilepsydiagnosis.org]

• Large Anterior Fontanels

  anterior fontanel, strabismus, malformed pinnae, broad nasal bridge and wide smooth philtrum. [ashg.org]

• Convulsions

  She later developed intractable convulsions and died at the age of 9 months. [adc.bmj.com]

  Epilepsy has been reported in 46% of these individuals but was never characterized, except in one child with generalized tonic-clonic convulsive status [Elhassanien and Alghaiaty, 2013; Prasad et al., 2013]. [karger.com]

  People with R20 seem particularly prone to episodes of non-convulsive status epilepticus (NCSE). This is when there is continuous abnormal electrical activity from the brain – which can be easily seen during an EEG. [epilepsy.org.uk]

  The second child had prolonged convulsions and when assessed at 39 months was found to be at an 18 month development level. [tp.amegroups.com]

• Neurologic Manifestation

  Elhassanien AF, Alghaiaty HA: Neurological manifestations associated in children with Sanjad-Sakati Syndrome. Int J Gen Med 6:393-398 (2013). [karger.com]

• Lip Smacking

  Complex partial seizures were characterized by sudden arrest of activity, staring gaze, hand wringing and lip smacking usually brief lasting 1-2 min but associated with significant postictal tiredness. [karger.com]

• Nocturnal Seizure

  Subtle nocturnal behavioral changes such as stretching, rubbing, turning that resemble arousal, subtle nocturnal seizures (SNS), and subtle nocturnal frontal lobe seizures (SNFL) have also been reported in studies of RC20 patients. [epilepsy.com]

• Somnolence

  Minassian First published January 14, 2016, DOI: A previously healthy 16-year-old girl of Jamaican descent presented with a 1-year history of progressive daytime somnolence, sleep attacks (sudden irresistible episodes of sleep), and paroxysms of altered [ng.neurology.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]

Direct in style but comprehensive in content, with ample tables and summaries, the Handbook of Epilepsy Treatment covers: Treatment of the different forms and causes of epilepsy Treatment in the different commonly encountered clinical situations Treatment [books.google.de]

Treatment The epilepsy associated with R20 syndrome is difficult to control. No single epilepsy medicine has been shown to be particularly effective, and many medicines, either singly or in combination, may be tried. [epilepsy.org.uk]

Together with insight provided by patient groups, the teams’ research could be the first step to finding an effective treatment. [healthawareness.co.uk]

In multivariate analysis, marker chromosomes independently predicted poor prognosis in the AML96 trial 60 years. [bloodjournal.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]

Dermatofibrosarcoma Protuberans (DFSP) Diagnosis Dermatofibrosarcoma Protuberans (DFSP) Prognosis [news-medical.net]

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]

Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation Rio, M; Ozilou, C; Cormier‐Daire, V; Turleau, C; Prieur, M; Vekemans, M; Chauveau, P; Munnich, A; Colleaux, L A genomic screen of autism: Evidence for a multilocus etiology [deepdyve.com]

Xiang B, Zhu H, Shen Y, Miller DT, Lu K, et al: Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J Mol Diagn 12:204-212 (2010). [karger.com]

Karyotype assessment is important to consider in all epilepsies where the etiology is uncertain as dysmorphic features may be subtle or not apparent. Karyotype examination should be extended to 50-100 mitoses to exclude mosaicism. [epilepsydiagnosis.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]

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(1):229-35. [ Links ] 23. Sárová I, Brezinová J, Zemanová Z, et al. [scielo.br]

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]

In accordance with its purpose as a scientific research platform, the GAZEL cohort is permanently open to epidemiologic research teams. [re3data.org]

Epidemiology [ edit ] Miller-Dieker occurs in less than one in 100000 people and can occur in all races. [ citation needed ] History [ edit ] MDS was named for the two physicians, James Q. Miller [7] and H. [en.wikipedia.org]

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]

[…] 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]

Tags: Feature 05 March 2019 DNA cable tie vital role in cancer prevention A cable tie-style ring of proteins that hold our chromosomes together as they replicate play a vital role in stopping DNA damage leading to cancer. Tags: Feature [ukri.org]

Telomerase expression is not sufficient for completely stabilizing the chromosome complement but may be crucial for preventing complete genomic deterioration and maintaining cellular survival. [pnas.org]

In cytogenetic nomenclature, marker chromosomes designate chromosomes that are rearranged to a level that prevents its allocation to 1 of the known 23 chromosomes. 19 Marker chromosomes thus reflect gross structural chromosomal damage. [bloodjournal.org]

Our results also could raise a question regarding the possible roles of CPC, Sgo2, and Swi6 in the prevention of DNA damage when the chromosome is circular, which would be interesting to investigate. Supporting information S1 Fig. [journals.plos.org]