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Beckwith-Wiedemann Syndrome

From WikiLectures


English: Beckwith-Wiedemann syndrome
Dictionary


  • This uniparental disomy is connected with changes of methylation on chromosome 11 (11p15). The syndrome affects more parts of the body.
  • Typical symptoms: macrosomia (overgrowth or simply gigantism), omphalocele (or related abdominall wall defect), large tongue (macroglossia), kidney abnormalities, hypoglycemia (because of the hyperinsulinisms) and increased risk of tumors (like Wilms tumor) during the childhood. About 20% of patients die in early age because of the complications of these congenital symptoms.
  • It is alo called EMG syndrome (exomphalos, macroglossia, gigantism).
  • Incidence of Beckwith-Wiedemann sydrome is 1 in 12 000 people worldwide.
  • Molecular-genetic diagnostics (inluding the identification of abnormal methylation) is possible.


Links[edit | edit source]

Related articles[edit | edit source]

Sources[edit | edit source]

Bibliography[edit | edit source]

  • KUMAR, ABBAS, FAUSTO, MITCHELL,. Robbins Basic Pathology. 8th edition edition. 2007. ISBN 978-0-8089-2366-4.

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English: Beckwith-Wiedemann syndrome
Dictionary
Dictionary

  • This uniparental disomy is connected with changes of methylation on chromosome 11 (11p15). The syndrome affects more parts of the body.

  • Typical symptoms: macrosomia (overgrowth or simply gigantism), omphalocele (or related abdominall wall defect), large tongue (macroglossia), kidney abnormalities, hypoglycemia (because of the hyperinsulinisms) and increased risk of tumors (like Wilms tumor) during the childhood. About 20% of patients die in early age because of the complications of these congenital symptoms.

  • It is alo called EMG syndrome (exomphalos, macroglossia, gigantism).

  • Incidence of Beckwith-Wiedemann sydrome is 1 in 12 000 people worldwide.

  • Molecular-genetic diagnostics (inluding the identification of abnormal methylation) is possible.

Sources

Bibliography

  • KUMAR, ABBAS, FAUSTO, MITCHELL,. Robbins Basic Pathology. 8th edition edition. 2007. ISBN 978-0-8089-2366-4.

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