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Case Reports
. 1986 Nov;74(3):323-5.
doi: 10.1007/BF00282559.

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

M Schömig-Spingler, M Schmid, W Brosi, T Grimm
Case Reports

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

M Schömig-Spingler et al. Hum Genet. 1986 Nov.

Abstract

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.

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References

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