Article
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
Human genetics - 1 Mar 2006
Bendavid Claude, Dubourg Christèle, Gicquel Isabelle, Pasquier Laurent, Saugier-Veber Pascale, Durou Marie-Renée, Jaillard Sylvie, Frébourg Thierry, Haddad Bassem R, Henry Catherine, Odent Sylvie, David Véronique
Abstract excerpt
Holoprosencephaly (HPE), the most common structural malformation of the forebrain in humans, can be detected early during pregnancy using prenatal ultrasonography . Among foetuses with a normal karyotype, 14% have mutations in the four main HPE genes (SHH, ZIC2, SIX3 and TGIF). Genomic rearrangements have now been implicated in many genetic diseases, so we hypothesized that microdeletions in the major HPE genes...
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