Fragile X syndrome a case report of a family.

Chatterjee, C; Guha, D; Das, S; Singh, S K; Dasgupta, U; Saha, S; Bannerjee, D

Chatterjee, C; Guha, D; Das, S; Singh, S K; Dasgupta, U; Saha, S; Bannerjee, D.

Indian J Pathol Microbiol ; 2001 Oct; 44(4): 499-502

Article in English | IMSEAR | ID: sea-73628

ABSTRACT

ABSTRACT

Fragile X syndrome is the most common of the inherited disorders causing mental retardation. This disorder results from an abnormal expansion in (CGG)n in repeat found in the coding sequence of the FMRI gene, located at Xq 27.3. Previously it was detected by Karyotyping. With the advent of Molecular Biology PCR, has become the best method in the diagnosis of this disorder. This is a case report of a family with this disorder detected by PCR.

Subject(s)

Adolescent; Adult; Child; DNA/analysis; Family Health; Female; Fragile X Mental Retardation Protein; Fragile X Syndrome/diagnosis; Humans; Male; Intellectual Disability/diagnosis; Middle Aged; Nerve Tissue Proteins/genetics; Polymerase Chain Reaction; RNA-Binding Proteins; Sex Chromosome Aberrations; Trinucleotide Repeat Expansion/genetics; X Chromosome/genetics

Fulltext

XML

Search on Google

Full text: Available Index: IMSEAR (South-East Asia) Main subject: Sex Chromosome Aberrations / X Chromosome / Female / Humans / Male / DNA / Child / Polymerase Chain Reaction / Family Health / Adolescent Language: English Journal: Indian J Pathol Microbiol Year: 2001 Type: Article

Similar

MEDLINE

LILACS

LIS

Fulltext

XML

Search on Google