title: Rare case of XX/XY mosaicism and trisomy 13 in early prenatal diagnosis.
abstract: Coexistence of XX/XY sex mosaicism and autosomal trisomy in prenatal diagnosis is particularly rare. Herein, we report the first, to our knowledge, case of a fetus with cyclopia, ambiguous genitalia and a 47,XX,+13,inv9[47]/47,XY,+13[13] karyotype detected at 13 weeks of gestation after chorionic villus sampling. Molecular analysis after prenatal diagnosis suggests that this is a case of sex mosaicism coexisting with trisomy 13, rather than chimera.
authors.affiliation: Department of Obstetrics & Gynecology, University Hospital of Heraklion, Crete, Greece.
authors.forename: Stavros
authors.initials: S
authors.lastname: Sifakis
authors.forename: Katherine
authors.initials: K
authors.lastname: Anagnostopoulou
authors.forename: Konstantina
authors.initials: K
authors.lastname: Plastira
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Vrachnis
authors.forename: Anastasia
authors.initials: A
authors.lastname: Konstantinidou
authors.forename: Evangelia
authors.initials: E
authors.lastname: Sklavounou
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D005835:Genitalia / Q000002:abnormalities / Q000000981:diagnostic imaging; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics; D014463:Ultrasonography
chemical_list: D005819:Genetic Markers