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

作者信息

García-Esquivel L, García-Cruz D, Rivera H, Plascencia M L, Cantú J M

出版信息

Ann Genet. 1986;29(1):36-8.

PMID:3487273
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.

摘要

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