Uniparental paternal disomy in a genetic cancer-predisposing syndrome
Article Abstract:
A region of chromosome 11 in humans contains the genetic defect involved in the development of the overgrowth syndrome known as Beckwith-Wiedemann syndrome (BWS). Although there are many clinical forms of BWS, the symptoms of BWS include gigantism and low levels of blood sugar. Some patients also develop embryonic tumors, such as Wilms' tumor. Certain genetic sequences from chromosome 11 were used as markers to study the inheritance of regions of chromosome 11 in eight patients with BWS. It was shown that the infants inherited two copies of genetic information on chromosome 11 from their fathers. This is unusual and is called paternal disomy and maternal deficiency. One copy of a gene is usually inherited from the mother and one from the father. Using these chromosomal markers, paternal disomy was also suggested in 21 other BWS patients. Therefore, this unusual genetic inheritance of information from the fathers appears to be associated with the development of BWS. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1991
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Disomy and disease resolved?
Article Abstract:
Sun and colleagues have provided evidence that the so-called Beckwith-Weidemann syndrome (BWS) and other symptoms can occur in children with double the usual dose of insulin-like growth factor-2 (IGF2). Mouse models have reinforced the possible link between BWS and the Simpson-Golabi-Behmel syndrome, another human overgrowth syndrome.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1997
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