Am J Med Genet. 1991 Sep 15;40(4):440-3.

Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.

Aughton DJ, Cassidy SB, Whiteman DA, Delach JA, Guttmacher AE.

Source

Department of Pediatrics, William Beaumont Hospital, Royal Oak, Michigan.

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 of 7p, 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.

Comment in

Am J Med Genet. 1993 Jan 1;45(1):108-10.

PMID:: 1746608; [PubMed - indexed for MEDLINE]

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