title: Terminal deletion of Xp in a dysmorphic anencephalic fetus.
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.
authors.affiliation: Unitat de Genètica, Ciutat Sanitària Vall d'Hebrón, Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Plaja
authors.forename: T
authors.initials: T
authors.lastname: Vendrell
authors.forename: E
authors.initials: E
authors.lastname: Sarret
authors.forename: N
authors.initials: N
authors.lastname: Torán
authors.forename: C
authors.initials: C
authors.lastname: Mediano
mesh_terms: D000311:Adrenal Glands / Q000473:pathology; D000328:Adult; D000757:Anencephaly / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007422:Intestines / Q000002:abnormalities; D007668:Kidney / Q000002:abnormalities; D008168:Lung / Q000473:pathology; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000473:pathology; D012886:Skull / Q000002:abnormalities; D014960:X Chromosome