title: Prenatal diagnosis and findings of tetrasomy 9p.
abstract: Tetrasomy 9p is a rare condition initially reported by Ghymers et al. Reported cases are a mix of prenatal and neonatal/pediatric cases in non-mosaic and mosaic cases. We report on the common mechanism leading to this form of chromosome abnormality, the various types of tetrasomy 9p as well as the prenatal sonographic and laboratory presentation of our case and previously reported cases with mosaic and non-mosaic tetrasomy 9p. From these reported cases, a recognizable syndrome is emerging. Multiple fetal abnormalities amenable to ultrasound diagnosis are likely to be present. However, neither ultrasound study alone nor the first-trimester screen for the common aneuploidies can suggest the correct diagnosis. Chromosome study of more than a single tissue is necessary in order to establish the correct diagnosis and to differentiate between mosaic and non-mosaic tetrasomy 9p cases.
authors.affiliation: Departments of Reproductive Biology and Genetics.|University Hospitals, Case Medical Center, Case Western Reserve School of Medicine, Cleveland, Ohio, USA.
authors.forename: Noam
authors.initials: N
authors.lastname: Lazebnik
authors.affiliation: University Hospitals, Case Medical Center, Case Western Reserve School of Medicine, Cleveland, Ohio, USA.
authors.forename: Leslie
authors.initials: L
authors.lastname: Cohen
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000025:Abortion, Eugenic; D000328:Adult; D000649:Amniocentesis; D000782:Aneuploidy; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D020732:Cytogenetic Analysis; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D005817:Genetic Counseling; D006801:Humans; D009030:Mosaicism; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
keywords: mosaic; non-mosaic; prenatal diagnosis; syndrome; tetrasomy 9p