title: A case report of prenatal diagnosis of PentaX syndrome in association with isolated borderline ventriculomegaly.
abstract: We report of case of pentaX syndrome that was diagnosed prenatally. PentaX aneuploidy is very rare with only 25 cases reported so far. This is the third case of prenatal diagnosis of pentaX syndrome in 2nd trimester. This patients underwent an amniocentesis for ventriculomegaly which confirmed the diagnosis.
authors.affiliation: The Fetal Medicine Unit, Homerton University Hospital, London E9 6S, UK.
authors.forename: V
authors.initials: V
authors.lastname: Thakur
authors.forename: H L
authors.initials: HL
authors.lastname: Gilbert
authors.forename: O
authors.initials: O
authors.lastname: Akinfenwa
mesh_terms: D000032:Abortion, Therapeutic; D000328:Adult; D002552:Cerebral Ventricles / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D041321:Chromosomes, Human, X; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D025064:Sex Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014463:Ultrasonography