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Terminal deletion of Xp in a dysmorphic anencephalic fetus
A Plaja1, T Vendrell, E Sarret
1Unitat de Genètica, Ciutat Sanitària Vall d'Hebrón, Barcelona, Spain.
Prenatal Diagnosis
|May 1, 1994
Abstract:
We report an anencephalic fetus with acrania, cervicodorsal rachischisis, and a 46,X,del(X)(p22.1) karyotype. Necropsy revealed a left diaphragmatic hernia, ipsilateral lung hypoplasia, and intestinal malrotation. The fetus also had horseshoe kidneys and adrenal gland hypoplasia with absence of the fetal zone.