title: Prenatal diagnosis of low level trisomy 15 mosaicism: review of the literature.
abstract: Low level chromosome mosaicism found at amniocentesis is problematic for clinicians and patients. We report prenatal diagnosis of a fetus with a rare karyotype of 47,XX, + 15/46,XX. Second trimester amniocentesis was performed for advanced maternal age. Fetal ultrasound revealed a hypoplastic right ventricle and intrauterine growth retardation (IUGR). The rest of the fetal anatomy was within normal limits. A mosaic karyotype of 47,XX, + 15/46,XX was observed. The couple interrupted the pregnancy at 19 weeks by dilation and suction evacuation. Careful evaluation of multiple pieces of fetal parts and placenta revealed one abnormal finding: a single umbilical artery. Cytogenetic metaphase and fluorescent in situ hybridization (FISH) interphase analyses of cells from fetal lung, heart, placenta, and skin revealed the presence of the trisomic line in all tissues. Molecular analysis demonstrated that the origin of the extra chromosome 15 was maternal, the error most likely occurred in meiosis I and the diploid line was of biparental inheritance. This case report discusses the associated findings in this fetus and reviews the literature describing other cases of mosaic trisomy 15.
authors.affiliation: Department of Pediatrics, Schneider Children's Hospital, The Long Island Campus for the Albert Einstein College of Medicine, New Hyde Park, NY 11040, USA.
authors.forename: A L
authors.initials: AL
authors.lastname: Zaslav
authors.forename: S
authors.initials: S
authors.lastname: Fallet
authors.forename: S
authors.initials: S
authors.lastname: Brown
authors.forename: R
authors.initials: R
authors.lastname: Ebert
authors.forename: A
authors.initials: A
authors.lastname: Fleischer
authors.forename: E
authors.initials: E
authors.lastname: Valderama
authors.forename: J E
authors.initials: JE
authors.lastname: Fox
mesh_terms: D000649:Amniocentesis; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics; D006059:Gonadal Dysgenesis / Q000235:genetics; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy; D014463:Ultrasonography