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

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Chromosome 7 short arm deletion, 7p21----pter.

A case report of a de novo deletion in the short arm of chromosome 7 is presented (46,XX,del(7)(p21----pter)). The five-month-old girl's major symptoms are: trigonocephalus with craniosynostosis, median bony forehead bulge, high palate, atrial septal defect, anal atresia and perineal fistula, thumb insertion far to ulnar-proximal, and a slightly retarded psychomotor development. The other cases with monosomy 7p described in the literature are reviewed.[1]

References

  1. Chromosome 7 short arm deletion, 7p21----pter. Schömig-Spingler, M., Schmid, M., Brosi, W., Grimm, T. Hum. Genet. (1986) [Pubmed]
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