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

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Del (8) (q212q2200) de novo in a boy without Langer-Giedion syndrome.

A two year-old boy with congenital malformations, psychomotor retardation and absence of phenotypical features of the Langer-Giedion syndrome ( LGS) was found to have a de novo del (8) (q212q2200). The comparative analysis with other 8q monosomic cases suggests the existence of at least two distinct syndromes: one due to the monosomy of a part of the segment 8q22----q24, clinically manifested as the LGS, and the other to the deletion of the band 8q21.[1]

References

  1. Del (8) (q212q2200) de novo in a boy without Langer-Giedion syndrome. Rivera, H., Rodríguez, R.M., Plascencia, M.L., Martínez y Martínez, R., Nazara, Z., Cantu, J.M. Journal de génétique humaine. (1983) [Pubmed]
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