Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene.

• Authors: M. Milewski , J. Bal , E. Bocian , E. Obersztyn , T. Mazurczak
• Languages of publication: EN

Abstracts

EN

Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation.Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found.Possible explanations of this result are discussed.With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation.No such difference appeared when affected and normal females with full mutation were compared.The proportion of mutated active X chromosome was significantly higher in mentally retarded females than those without any mantal impairment.

Keywords

EN

AMPLIFICATION SIZE; FRAGILE X SYNDROME; FULL MUTATION; MENTAL RETARDATION; X CHROMOSOME INACTIVATION

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 1996
• Volume: 37
• Issue: 2
• Pages: 205-215

Contributors

author

M. Milewski

author

J. Bal

author

E. Bocian

author

E. Obersztyn

author

T. Mazurczak

• Document Type: article
• Publication order reference: M.Milewski