title: Sex reversal from functional disomy of Xp: prenatal and post-mortem findings.
abstract: Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledge, this is the first description of an XY fetus with a pure duplication of the entire short arm of X chromosome.
authors.affiliation: U. O. Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Università degli Studi di Palermo, Palermo, Italy. piccionemaria@libero.it
authors.forename: Maria
authors.initials: M
authors.lastname: Piccione
authors.forename: Emiliano
authors.initials: E
authors.lastname: Maresi
authors.forename: Marcella
authors.initials: M
authors.lastname: Zollino
authors.forename: Cinzia
authors.initials: C
authors.lastname: Sanfilippo
authors.forename: Laura
authors.initials: L
authors.lastname: Seminara
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D020223:Chromosome Painting; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging; D012734:Disorders of Sex Development; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000000981:diagnostic imaging; D014178:Translocation, Genetic; D014463:Ultrasonography