title: De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects.
authors.affiliation: Departments of Medical Sciences, Nano and Biotechnologies Pediatrics, G. D'Annunzio University, Chieti Department of Obstetrics and Gynecology, Civilian Hospital, Avezzano Medical Genetics 'Spirito Santo' Hospital, Pescara, Italy.
authors.forename: Melissa
authors.initials: M
authors.lastname: Alfonsi
authors.forename: Chiara
authors.initials: C
authors.lastname: Palka
authors.forename: Elisena
authors.initials: E
authors.lastname: Morizio
authors.forename: Valentina
authors.initials: V
authors.lastname: Gatta
authors.forename: Ivana
authors.initials: I
authors.lastname: Antonucci
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Ruggeri
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
authors.forename: Liborio
authors.initials: L
authors.lastname: Stuppia
authors.forename: Giandomenico
authors.initials: G
authors.lastname: Palka
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calabrese
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D058490:Disorder of Sex Development, 46,XY / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D054339:Steroidogenic Factor 1 / Q000235:genetics
chemical_list: C515057:NR5A1 protein, human; D054339:Steroidogenic Factor 1