title: [Difficulties of genetic counselling in rare, mainly neurogenetic disorders].
abstract: BACKGROUND
  In recent decades methods used for the investigation of the genetic background of rare diseases showed a great improvement.
  
  
  OBJECTIVE
  The aim of the authors was to demonstrate difficulties of genetic counselling and investigations in case of five rare, mainly neurogenetic diseases.
  
  
  METHODS
  During pre-test genetic counselling, the disease suspected from the clinical symptoms and the available genetic tests were considered. During post-test genetic counselling, the results of the genetic tests were discussed.
  
  
  RESULTS
  In three of the five cases genetic tests identified the disease-causing genetic abnormalities, while in two cases the causative abnormalities were not identified.
  
  
  CONCLUSIONS
  Despite a great improvement of the available genetic methods, the causative genetic abnormalities cannot be identified in some cases. The genetic counsellor has a key role in the assessment and interpretation of the results and in helping the family planning.
authors.affiliation: Szegedi Tudományegyetem, Általános Orvostudományi Kar Orvosi Genetikai Intézet Szeged Somogyi Béla u. 4. 6720.
authors.forename: Emese
authors.initials: E
authors.lastname: Horváth
authors.affiliation: Szegedi Tudományegyetem, Általános Orvostudományi Kar Orvosi Genetikai Intézet Szeged Somogyi Béla u. 4. 6720.
authors.forename: Nikoletta
authors.initials: N
authors.lastname: Nagy
authors.affiliation: Szegedi Tudományegyetem, Általános Orvostudományi Kar Orvosi Genetikai Intézet Szeged Somogyi Béla u. 4. 6720.
authors.forename: Márta
authors.initials: M
authors.lastname: Széll
mesh_terms: D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D017696:Myopathies, Nemaline / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D035583:Rare Diseases; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis / Q000235:genetics*; D016750:Stiff-Person Syndrome / Q000175:diagnosis / Q000235:genetics*
keywords: citogenetika; cytogenetic investigations; genetic counselling; genetikai tanácsadás; molecular biology; molekuláris biológia; neurogenetics; neurogenetika; rare diseases; ritka betegségek