TERMINAL DELETION OF XP IN A DYSMORPHIC ANENCEPHALIC FETUS

Authors
PLAJA A VENDRELL T SARRET E TORAN N MEDIANO C
Citation
A. Plaja et al., TERMINAL DELETION OF XP IN A DYSMORPHIC ANENCEPHALIC FETUS, Prenatal diagnosis, 14(5), 1994, pp. 410-412
Citations number
9
Categorie Soggetti
Obsetric & Gynecology
Journal title
Prenatal diagnosis → ACNP
ISSN journal
01973851
Volume
14
Issue
5
Year of publication
1994
Pages
410 - 412
Database
ISI
SICI code
0197-3851(1994)14:5<410:TDOXIA>2.0.ZU;2-P
Abstract
We report an anencephalic fetus with acrania, cervicodorsal rachischis is, and a 46,X,del(X)(p22.1) karyotype. Necropsy revealed a left diaph ragmatic hernia, ipsilateral lung hypoplasia, and intestinal malrotati on. The fetus also had horseshoe kidneys and adrenal gland hypoplasia with absence of the fetal zone.