Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A
Institute of Medical Genetics, University of Zürich, Switzerland.
Am J Med Genet. 1998 Oct 12;79(5):347-53. doi: 10.1002/(sici)1096-8628(19981012)79:5<347::aid-ajmg4>3.0.co;2-g.
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.
11号染色体臂的基因组印记与威德曼-贝克威思综合征（WBS）有关。约20%的散发性WBS患者存在11号染色体臂的父源单亲二体（UPD）。有人提出11号染色体区域的有丝分裂重组是这些患者体细胞镶嵌现象的原因。我们目前针对散发性WBS患者的研究发现，有6例患者的等二体镶嵌仅限于11号染色体臂的部分区域，1例患者的11号染色体整条染色体存在父源单亲二体镶嵌。显然，该患者的临床发现与其他WBS患者报告的数据并无差异。这一病例表明，11号染色体的近端短臂和长臂不太可能含有在产前或婴儿期就能识别出表型的印记基因，并为非镶嵌性UPD-11在产前致死的假说提供了一些支持。
