Neha Patil (Editor)

Microdeletion syndrome

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Microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2-5 Mb). Detection is done by fluorescence in situ hybridization (FISH). Larger chromosomal deletion syndromes are detectable using karyotyping techniques

Contents

Examples

  • DiGeorge syndrome or velocardiofacial syndrome - most common microdeletion syndrome
  • Prader–Willi syndrome
  • Angelman syndrome
  • Neurofibromatosis type 1
  • Neurofibromatosis type II
  • Williams syndrome
  • Miller–Dieker syndrome
  • Smith–Magenis syndrome
  • Rubinstein–Taybi syndrome
  • Wolf–Hirschhorn syndrome

    • Management

    No cure is available for these genetically inherited disorders. Genetic counseling is required.

    References

    Microdeletion syndrome Wikipedia
    (Text) CC BY-SA