Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases
✍ Scribed by Catherine Turleau; Jean Grouchy; Françoise Chavin-Colin; Hélène Martelli; Marcel Voyer; Robert Charlas
- Publisher
- Springer
- Year
- 1984
- Tongue
- English
- Weight
- 794 KB
- Volume
- 67
- Category
- Article
- ISSN
- 0340-6717
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📜 SIMILAR VOLUMES
We have studied a family in which four members of the same generation were affected with Wiedemann-Beckwith syndrome (WBS). Trisomy llp15 was demonstrated using molecular probes in interphase nuclei of formalin-fixed paraffin-embedded placenta from a stillborn fetus and in peripheral blood lymphocyt
Genomic imprinting of chromosome arm 11p is involved in the Wiedemann-Beckwith syndrome (WBS). About 20% of patients with sporadic WBS have paternal uniparental disomy (UPD) of 11p. Mitotic recombination at the 11p region has been suggested to be responsible for the somatic mosaicism in these patien
Wiedemann-Beckwith syndrome (WBS) is a heterogeneous overgrowth syndrome associated with malformations and an elevated risk of developing embryonal tumors. WBS is a multigenic disorder caused by dysregulation of imprinted growth regulatory genes within the 11p15 region. Elucidation of the genetic ca