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17q11 Microdeletion Syndrome

Neurofibromatosis Type 1


Presentation

  • Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11.2 microduplications.[ncbi.nlm.nih.gov]
  • We present a 3 year old girl, born to consanguineous Sephardic Jewish parents, who are known carriers of Sandhoff disease, for which prenatal diagnosis was performed with normal results.[ashg.org]
  • Springer, ١٧‏/١١‏/٢٠١٦ - 142 من الصفحات This book presents a long-term study in genetic isolates of indigenous small ethnics of Dagestan, located in the North-East part of Caucasus in Russia.[books.google.com]
  • Case presentation Here we reported a patient carrying a novel de novo deletion at 17q11.2 adjacent to NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile[molecularcytogenetics.biomedcentral.com]
  • If present, they should lead to the suspicion of an NF1 microdeletion syndrome.[karger.com]
Plethora
  • The book also discusses how insights into the regulation of apoptosome may be exploited for designing new drugs aimed at interfere with a plethora of pathogenetic processes involved in human diseases.[books.google.de]
Neglect
  • Key Features: Provides thorough information on understanding functional neuroanatomy and development, and on using functional neuroimaging Highlights clinical practice issues, such as legal and ethical decision-making, dealing with child abuse and neglect[books.google.de]

Workup

  • Clinical Testing and Workup In the past, a specific chromosomal study known as G-band analysis, which demonstrates missing (deleted) material on chromosome 17p, was used to help obtain a diagnosis of SMS.[rarediseases.org]

Treatment

  • The authors emphasize novel translational approaches that are rapidly moving from the laboratory bench top to the patient's bedside for the future treatment of diseases associated with apoptosis.[books.google.de]
  • It focuses on the genetics and molecular biology underlying these diseases, but also covers their clinical features, diagnosis and treatment, stressing the need for interdisciplinary medical care.[books.google.de]

Prognosis

  • The variable expressivity of the disease makes it challenging to establish genotype–phenotype correlations, which also affects prognosis and counselling. We here describe a 3-year-old NF1 patient with an atypical deletion and a complex phenotype.[moh-it.pure.elsevier.com]
  • Diagnosis - Neurofibromatosis type 1 Prognosis - Neurofibromatosis type 1 Treatment - Neurofibromatosis type 1 There is no cure for the disorder itself.[checkorphan.org]
  • Prognosis Because of the highly variable nature of SMS, it is impossible to generalize about prognosis for individual cases.[rarediseases.org]

Etiology

  • Etiology Germline and mosaic microdeletions of the NF1 gene and its flanking regions caused by non-allelic homologous recombination are reported in patients with this disorder. Most occur de novo.[rarediseases.info.nih.gov]
  • Yes, I know—it might have taken less space to list the genetic features scientists have not implicated in autism’s etiology. Copyright 2011 by Alan Griswold All rights reserved.[autisticsongs.com]
  • Here, we review behavioral and neurobiological findings from selected animal models, based on presumed etiology and risk factors... more Background: Velocardiofacial syndrome (VCFS) is a congenital malformation syndrome with an estimated prevalence of[scinapse.io]

Epidemiology

  • This new edition contains several chapters on the associated problems of autism, such as intellectual disability, epilepsy, tics, eating disorders and sleep problems, as well as a chapter on epidemiology that documents the historical increase in autism[books.google.de]
  • Epidemiology The prevalence of 17q11 microdeletion syndrome is not known. About 5% of NF1 cases are reported to have deletions of the entire NF1 gene. More than 170 affected patients have been reported to date.[rarediseases.info.nih.gov]
  • [MeSH:NoExp] OR Incidence [Title/abstract] OR Prevalence[Title/abstract] OR Epidemiology[Title /abstract]; Medical texts, grey literature and reports from experts;  Orphanet collaborating experts .[azkurs.org]
Sex distribution
Age distribution

Pathophysiology

  • Identification of several chromosomal aberrations may be especially important, given the unknown pathophysiology, the paucity of known br... more This case series reinforces findings from previous studies of 22q11.2 deletion syndrome (22q11.2DS) and presents[scinapse.io]
  • The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 335: 1870, 2005. CrossRef Google Scholar 9. Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J.[link.springer.com]

Prevention

  • Symptoms - Neurofibromatosis type 1 Causes - Neurofibromatosis type 1 Prevention - Neurofibromatosis type 1 NF-1 cannot be prevented.[checkorphan.org]
  • Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control Institute, No 59, Xiangzhu Road, Nanning, China.[pubfacts.com]
  • […] examinons les donnees indiquant que la schizophrenie ap... more The mental well-being of humans depends on the discovery of the causes of mental illnesses and the use of this knowledge to direct the generation of new treatments and the development of preventive[scinapse.io]
  • […] of different sources are used :  Registries (RARECARE, EUROCAT, etc) ;  National/international health institutes and agencies (Institut National de Veille Sanitaire (French Institute of Health Surveillance); American Center of Disease Control and Prevention[azkurs.org]
  • Glial membranes at the node of Ranvier prevent neurite outgrowth. Science 2005; 310 : 1813–1817. 41. Girirajan S, Rosenfeld JA, Cooper GM, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.[nature.com]

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