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

Ectrodactyly and proximal/intermediate interstitial deletion 7q.

We report on an individual with severe mental retardation, seizures, microcephaly, unusual face, scoliosis, and cleft feet and cleft right hand. The chromosomal study showed a proximal interstitial deletion 7q (q11.23q22). From our review of the literature, 11 patients have been reported with ectrodactyly (split hand/split foot malformation) and proximal/intermediate interstitial deletions or rearrangements of 7q. The critical segment for ectrodactyly seems to be located between 7q21.2 and 7q22. 1. This malformation is present in 41% of the patients whose deletion involves the critical segment.[1]


  1. Ectrodactyly and proximal/intermediate interstitial deletion 7q. McElveen, C., Carvajal, M.V., Moscatello, D., Towner, J., Lacassie, Y. Am. J. Med. Genet. (1995) [Pubmed]
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