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Beckwith-Wiedemann syndrome due to 11p15 microduplication

MedGen UID:: 1826126
•Concept ID:: C5681581
•: Disease or Syndrome

Monarch Initiative:	MONDO:0019875
Orphanet:	ORPHA96076

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBeckwith-Wiedemann syndrome due to 11p15 microduplication

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital chromosomal disease
      - Beckwith-Wiedemann syndrome
        Beckwith-Wiedemann syndrome due to 11p15 microduplication

Recent clinical studies

Etiology

Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome.

Henry I, Jeanpierre M, Barichard F, Serre JL, Mallet J, Turleau C, de Grouchy J, Junien C
Ann Genet 1988;31(4):216-20. PMID: 2905880

Prognosis

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

Boonen SE, Freschi A, Christensen R, Valente FM, Lildballe DL, Perone L, Palumbo O, Carella M, Uldbjerg N, Sparago A, Riccio A, Cerrato F
Clin Epigenetics 2016;8:69. Epub 2016 Jun 16 doi: 10.1186/s13148-016-0236-z. PMID: 27313795 Free PMC Article

Clinical prediction guides

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

Boonen SE, Freschi A, Christensen R, Valente FM, Lildballe DL, Perone L, Palumbo O, Carella M, Uldbjerg N, Sparago A, Riccio A, Cerrato F
Clin Epigenetics 2016;8:69. Epub 2016 Jun 16 doi: 10.1186/s13148-016-0236-z. PMID: 27313795 Free PMC Article

Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome.

Henry I, Jeanpierre M, Barichard F, Serre JL, Mallet J, Turleau C, de Grouchy J, Junien C
Ann Genet 1988;31(4):216-20. PMID: 2905880

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