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

    Subscribe Medicine Question BankWhatsApp Channel

    FREE Updates, MCQs & Questions For Doctors & Medical Students

      Medicine Question Bank
      Enable Notifications OK No thanks