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Chromosome 7p – syndrome: Craniosynostosis with preservation of region 7p2

1991; Wiley; Volume: 40; Issue: 4 Linguagem: Inglês

10.1002/ajmg.1320400412

1096-8628

David J. Aughton, Suzanne B. Cassidy, David Whiteman, Judith A. Delach, Alan E. Guttmacher,

Craniofacial Disorders and Treatments

Abstract Deletion of a portion of the short arm of chromosome 7 is associated with a recognizable phenotype which often includes craniosynostosis. Recent reports have suggested that craniosynostosis occurs only if there is a deletion involving band 7p21 or the segment distal to that band. We report on a boy who had an interstitial deletion of7p, not involving band 7p21 or the segment distal to that band, who nevertheless had craniosynostosis. Thus, it appears that the determination of craniosynostosis in this syndrome is more complicated than has been suggested previously.