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

Lip pits and deletion 1q32----41.

A patient with an interstitial deletion of chromosome 1q[del(1q32----41)] was found to have, among other anomalies, congenital lower-lip pits. Lip pits are rare and are found mainly in association with the van der Woude syndrome and the popliteal pterygium syndrome; we cannot find a report of their association with a chromosome anomaly. To our knowledge, interstitial deletion of the segment 1q32----41 has not been reported. This observation raises the possibility that the van der Woude syndrome may be due to a submicroscopic deletion of chromosome 1q.[1]


  1. Lip pits and deletion 1q32----41. Bocian, M., Walker, A.P. Am. J. Med. Genet. (1987) [Pubmed]
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