Terminal deletion of Xp in a dysmorphic anencephalic fetus |
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| Authors: | A Plaja T Vendrell E Sarret N Torán C Mediano |
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| Institution: | 1. Unitat de Genètica, Ciutat Sanitària Vall d'Hebrón, Barcelona, Spain;2. Departament d' Anatomia Patològica, Ciutat Sanitària Vall d'Hebrón, Barcelona, Spain |
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| 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. |
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| Keywords: | Chromosome X chromosome deletion anencephaly |
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