Fragile X syndrome a case report of a family.
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.
Chatterjee
C
C
Department of Pathology, IPGME&R, Neurology B.I.N., & Molecular Biology Rajabazar Science College.
Guha
D
D
Das
S
S
Singh
S K
SK
Dasgupta
U
U
Saha
S
S
Bannerjee
D
D
D000293:Adolescent; D000328:Adult; D002648:Child; D004247:DNA / Q000032:analysis; D005192:Family Health; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins; D012729:Sex Chromosome Aberrations; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D014960:X Chromosome / Q000235:genetics
D004247:DNA; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human