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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.

Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.[1]

References

  1. Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion. Brewer, C.M., Lam, W.W., Hayward, C., Grace, E., Maher, E.R., FitzPatrick, D.R. J. Med. Genet. (1998) [Pubmed]
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