Fragile X syndrome


Most common forms of DNA variation in the human genome are –


  1. Single-nucleotide polymorphisms (SNPs)
  2. Copy number variations (CNVs)

Most prevalent inherited cause of intellectual disability –


Fragile X syndrome – Inheritable


Most common genetic [chromosome abnormality] cause of intellectual disability-


Down’s syndrome


Fragile X syndrome is also called –


Martin-Bell syndrome


Fragile X syndrome is caused by mutation in


FMR1 gene.


FMR1 is a gene located on the X chromosome

FMR1 gene – produces a protein called FMRP

FMRP needed for proper cell function


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