Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.
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 patients. Our current study concerning sporadic WBS patients demonstrated six patients with mosaic isodisomy restricted to part of 11p and one patient with mosaic paternal uniparental disomy for the whole chromosome 11. Apparently the clinical findings for this patient did not differ from data reported for other WBS patients. This case makes it unlikely that the proximal short arm and the long arm of chromosome 11 contain imprinted genes with a phenotype recognizable prenatally or in infancy, and gives some support to the hypothesis that non-mosaic UPD-11 is prenatally lethal.
Institute of Medical Genetics, University of Zürich, Switzerland.
F
F
Dutly
A
A
Baumer
H
H
Kayserili
M
M
Yüksel-Apak
T
T
Zerova
G
G
Hebisch
A
A
Schinzel
D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics* / Q000473:pathology; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D016147:Genes, Tumor Suppressor / Q000235:genetics; D005819:Genetic Markers; D018392:Genomic Imprinting / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics; D010375:Pedigree; D011401:Promoter Regions, Genetic / Q000235:genetics; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated
D005819:Genetic Markers; C094335:H19 long non-coding RNA; D009124:Muscle Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D004247:DNA