Terminal deletion of Xp in a dysmorphic anencephalic fetus.
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.
Plaja
A
A
Unitat de Genètica, Ciutat Sanitària Vall d'Hebrón, Barcelona, Spain.
Vendrell
T
T
Sarret
E
E
Torán
N
N
Mediano
C
C
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