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Ring Chromosome 10

Ring Chromosome 10 Syndrome


Presentation

  • In some of the cases congenital heart disease was present.[ncbi.nlm.nih.gov]
  • […] if the condition was present at the time of inpatient admission.[icd.codes]
Single Transverse Palmar Crease
  • Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar creases, undescended testes, and hypoplastic scrotum.[ncbi.nlm.nih.gov]
  • The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum.[malacards.org]
  • Less than 20 cases have been described The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly.[dovemed.com]
Weakness
  • […] lobules [ more ] 0009748 Long philtrum 0000343 Low-set ears Low set ears Lowset ears [ more ] 0000369 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Microphthalmia Abnormally small eyeball 0000568 Muscular hypotonia Low or weak[rarediseases.info.nih.gov]
  • Four forms of this syndrome are recognized: 6-40 repetitions weak form 41-60 repetitions middle form 61-200 repetitions strong form 200 repetitions full mutation, influencing the phenotype Since it is an X linked mutation men are more affected than women[embryology.ch]
Inflammation
  • More recently, ADAM8 has been strongly associated with allergic airway inflammation (AAI) in humans and mice, and additional studies of ADAM8 are beginning to shed light on its roles in asthma pathogenesis [ 33 ].[molecularcytogenetics.biomedcentral.com]
  • More recently, ADAM8 has been strongly associated with allergic airway inflammation (AAI) in humans and mice, and additional studies of ADAM8 are beginning to shed light on its roles in asthma pathogenesis [33].[cyberleninka.org]
Failure to Thrive
  • They showed a phenotype consistent with the “ring syndrome” with failure to thrive, minor dysmporphic features and no major anomalies.[tp.amegroups.com]
Normal Hearing
  • She was found to have normal hearing acuity after birth. A cardiac ultrasound examination showed a large patent ductus arteriosus. She had no feeding difficulties. Abdominal organs were without structural abnormalities.[molecularcytogenetics.biomedcentral.com]
Osteopenia
  • While patient 1 presented with clinical features usually found in patients with r(10) and terminal 10q deletion, patient 2 presented characteristics so far not described in other patients with r(10), such as Dandy-Walker variant, osteopenia, semi-flexed[ncbi.nlm.nih.gov]
Widely Spaced Nipples
  • nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose[rarediseases.info.nih.gov]
  • […] consisting of microcephaly, slight metopic ridge, low-set ears, downslanting and narrowing of palpebral fissures, broad nasal bridge, stubby nose, smooth philtrum with thin upper lip and everted lower lip, microstomia, narrow palate, short neck, inverted and widely-spaced[molecularcytogenetics.biomedcentral.com]
Waddling Gait
  • Arslan M, Yis U, Vurucu S, Tunca Y, Unay B, et al. (2012) Ring chromosome 21 in the differential diagnosis of waddling gait. Brain Dev 34: 792-795.[omicsonline.org]

Workup

  • Clinical Report A 40-year old Italian woman came to our attention during the ART workup. She was phenotypically normal, no developmental delay, learning problems, or intellectual disability.[tandfonline.com]
Small Kidney
  • kidney Absent/underdeveloped kidney [ more ] 0008678 Sandal gap Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes Wide[rarediseases.info.nih.gov]

Treatment

  • This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations.[books.google.com]
  • The complications of Ring Chromosome 10 Syndrome may include: Severe malnutrition Kidney abnormalities Intellectual deficit Complications may occur with or without treatment, and in some cases, due to treatment also.[dovemed.com]
  • 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 10 ring Not supplied. Resources - Chromosome 10 ring Not supplied.[checkorphan.org]
  • 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]

Prognosis

  • Prognosis - Chromosome 10 ring Not supplied. Treatment - Chromosome 10 ring Not supplied. Resources - Chromosome 10 ring Not supplied.[checkorphan.org]
  • In multivariate analysis, marker chromosomes independently predicted poor prognosis in the AML96 trial 60 years.[bloodjournal.org]
  • Interestingly, leukemia with translocations involving MLL shows poor prognosis.[scielo.br]
  • This would greatly improve the ability to predict phenotype and contribute to better-informed prenatal counseling and prognosis.[tandfonline.com]

Etiology

  • Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases.[books.google.com]
  • Our goal is to determine the molecular etiology of the seizures associated with the ring chromosome 14 syndrome.[ring14.org]
  • 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]
  • Visceral abnormalities were also noted: 3 patients had renal anomalies, 2 with vesico-ureteral reflux and 1 with acute renal failure of unknown etiology and 2 patients had an ASD.[molecularcytogenetics.biomedcentral.com]

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

Pathophysiology

  • Expression and regulation of the metalloproteinase ADAM-8 during human neutrophil pathophysiological activation and its catalytic activity on L-selectin shedding. J Immunol. 2007;178:8053–63.[molecularcytogenetics.biomedcentral.com]
  • Expression and regulation of the metalloproteinase ADAM-8 during human neutrophil pathophysiological activation and its catalytic activity on L-selectin shedding. J Immunol. 2007;178:8053-63. 31.[cyberleninka.org]

Prevention

  • How can Ring Chromosome 10 Syndrome be Prevented? Currently, Ring Chromosome 10 Syndrome may not be preventable, since it is a genetic disorder.[dovemed.com]
  • Prevention - Chromosome 10 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]
  • Risk Factors and Preventive Measures Most chromosomal disorders are random events for which there are no preventive measures.[thisability.org]
  • Physicians may recommend preventive measures for affected infants and children who may be prone to repeated respiratory infections.[rarediseases.org]

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