Abstract:
:The Beckwith-Wiedemann syndrome (BWS) is characterised by multiple congenital abnormalities, including exomphalos, macroglossia, and gigantism. It is also associated with an elevated risk of embryonal neoplasia and occasionally with constitutional anomalies of chromosome band 11p15. A common pathogenetic mechanism for the development of several embryonal tumours has been proposed involving the loss of somatic heterozygosity for a locus on the short arm of chromosome 11. In support of this hypothesis, we have recently reported generation of homozygosity for the c-Ha-ras-1 protooncogene in an adrenal adenoma from an adult BWS patient. In this study we report the generation of homozygosity for a region on the short arm of chromosome 11 defined by the calcitonin (11p13-15) and insulin (11p15-15.1) genes in a hepatoblastoma from a child with BWS.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Little MH,Thomson DB,Hayward NK,Smith PJdoi
10.1007/BF00280564subject
Has Abstractpub_date
1988-06-01 00:00:00pages
186-9issue
2eissn
0340-6717issn
1432-1203journal_volume
79pub_type
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