[Difficulties of genetic counselling in rare, mainly neurogenetic disorders].

doi:10.1556/OH.2014.29957

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Article

[Difficulties of genetic counselling in rare, mainly neurogenetic disorders].

Orvosi hetilap - 3 Aug 2014

Horváth Emese, Nagy Nikoletta, Széll Márta

Abstract excerpt

INTRODUCTION: In recent decades methods used for the investigation of the genetic background of rare diseases showed a great improvement. AIM: The aim of the authors was to demonstrate difficulties of genetic counselling and investigations in case of five rare, mainly neurogenetic diseases. METHOD: During pre-test genetic counselling, the disease suspected from the clinical symptoms and the available genetic...

Topics

Adult
Angelman Syndrome
Chromosome Aberrations
Cytogenetic Analysis
Ectodermal Dysplasia 1, Anhidrotic
Female
Genetic Counseling
Genetic Testing
Humans
Infant
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myopathies, Nemaline

Pedigree

Pregnancy

Rare Diseases

Rubinstein-Taybi Syndrome

Stiff-Person Syndrome

Source

Open in PubMed

Identifiers

PMID: 25095282
DOI: 10.1556/OH.2014.29957

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