Article
De novo del(7)(pter→p21.2::p15.2→qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome
Fecha
1986Autor
Garcia-Esquivel, L.
Garcia-Cruz, D.
Rivera, H.
Plascencia, M.L.
Cantu, J.M.
Institución
Resumen
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.