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Case Reports
. 1986;29(1):36-8.

De novo del(7)(pter----p21.2::p15.2----qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome

L García-Esquivel, D García-Cruz, H Rivera, M L Plascencia, J M Cantú
  • PMID: 3487273
Case Reports

De novo del(7)(pter----p21.2::p15.2----qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome

L García-Esquivel et al. Ann Genet. 1986.

Abstract

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.

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