De novo del(7)(pter----p21.2::p15.2----qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome.
A 4 year-old boy was found to have a typical 7p2 monosomy syndrome, including craniosynostosis, due to a de novo del(7)(pter----p21.2::p15.2----qter). It is concluded that the band 7p21 (probably only the subband p21.1) is the critical segment for the full clinical expression of this aneusomy.
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003398:Craniosynostoses / Q000235:genetics*; D006801:Humans; D008297:Male; D009006:Monosomy