title: Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report.
abstract: Trisomy 16 is frequently found confined to the placenta (confined placental mosaicism (CPM)), with a structurally normal fetus. In some cases of trisomy 16, the fetus has uniparental disomy for chromosome 16 (UPD16) which is associated with intrauterine growth restriction (IUGR) and fetal anomalies. We report a case of apparent confined placental mosaicism for trisomy 16, using standard cytogenetic techniques, but with multiple fetal abnormalities including congenital diaphragmatic hernia in which there was no evidence of UPD in the disomic tissues examined. Subsequent examination of fetal tissues using fluorescent in situ hybridization (FISH) demonstrated low levels of mosaicism for trisomy 16 in all the tissues examined. The use of FISH permits identification of mosaicism which conventional techniques may not identify.
authors.affiliation: Department of Maternal and Fetal Medicine, Division of Paediatrics, Obstetrics and Gynaecology, Imperial College School of Medicine, London, U.K. pjohnson@ic.ac.uk
authors.forename: P
authors.initials: P
authors.lastname: Johnson
authors.forename: K
authors.initials: K
authors.lastname: Duncan
authors.forename: S
authors.initials: S
authors.lastname: Blunt
authors.forename: G
authors.initials: G
authors.lastname: Bell
authors.forename: Z
authors.initials: Z
authors.lastname: Ali
authors.forename: P
authors.initials: P
authors.lastname: Cox
authors.forename: G E
authors.initials: GE
authors.lastname: Moore
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D015193:Chorionic Villi Sampling; D002885:Chromosomes, Human, Pair 16; D005260:Female; D005865:Gestational Age; D006548:Hernia, Diaphragmatic / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism; D010920:Placenta; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy