6533b824fe1ef96bd127ffa5
RESEARCH PRODUCT
Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings.
Marcella ZollinoEmiliano MaresiMaria PiccioneGiovanni NeriGiovanni CorselloCinzia SanfilippoLaura Seminarasubject
Malesex severalDisorders of Sex DevelopmentChromosomal translocationBiologysex reversal • Xp disomy • DAX1 gene • multiple congenital anomaliesTranslocation GeneticChromosome PaintingSettore MED/38 - Pediatria Generale E SpecialisticaPregnancyPrenatal DiagnosisGene duplicationGeneticsHumansAbnormalities MultipleGenetics (clinical)X chromosomeSex Chromosome AberrationsSegmental duplicationUltrasonographyGeneticsChromosome AberrationsChromosomes Human Pair 14FetusChromosomes Human XSex ChromosomesInfant NewbornChromosomeKaryotypeSex reversalChromosome BandingPhenotypeSettore MED/03 - Genetica MedicaKaryotypingTetralogy of FallotFemaledisomy XpDandy-Walker Syndromedescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2008-01-01 |