Article Abstract:
The development of Beckwith-Wiedemann syndrome (BWS), a fetal overgrowth syndrome in humans, is associated with the inheritance of two copies of a region on chromosome 11 from the father. Although there are many clinical forms of BWS, symptoms include gigantism and low levels of blood sugar. One copy of a gene is usually inherited from the mother and one from the father. The inheritance of two copies of genetic information from the father is unusual and is called paternal disomy and maternal deficiency. Studies in mice show that the gene for insulin-like growth factor-2 (Igf2) is located in this chromosomal region. Other genes have been identified in this region, including genes involved in other embryonic cancers, such as Wilms' tumor (tumor of the kidneys), hepatoblastoma (tumor of the liver) and rhabdomyosarcoma (tumor of muscles). These types of tumors occur in 12.5 percent of patients with BWS and are associated with a loss of maternal genetic information; this suggests that the lost gene suppresses tumor development. Therefore, the abnormalities in BWS are the result of multiple genetic changes, caused by the abnormal inheritance of genetic information from one parent. This theory also explains why so many clinical forms of BWS are seen. (Consumer Summary produced by Reliance Medical Information, Inc.)
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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.)
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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.
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