title: Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization.
abstract: A fetus with de novo ring chromosome 16 is presented. At 20 weeks' gestation, ultrasound examination demonstrated bilateral clubfoot, bilateral renal pyelectasis, hypoplasia of the corpus callosum, and transposition of the great vessel. Amniocentesis was performed. Chromosome analysis identified a ring chromosome 16 [47,XY,r(16)] and array comparative genomic hybridization (a-CGH) demonstrated that the ring included the euchromatic portion 16p11.2. Postmortem examination confirmed prenatal findings. This is the first case of de novo ring chromosome 16 diagnosed prenatally with a new phenotypic pattern and also reinforces the importance of offering amniocentesis with a-CGH if fetal anomalies are detected.
authors.affiliation: "Artemisia" Fetal-Maternal Medical Centre, Department of Prenatal Diagnosis, Rome.
authors.forename: Pietro
authors.initials: P
authors.lastname: Cignini
authors.forename: Angela
authors.initials: A
authors.lastname: Dinatale
authors.forename: Laura
authors.initials: L
authors.lastname: D'Emidio
authors.forename: Annamaria
authors.initials: A
authors.lastname: Giacobbe
authors.forename: Elisa Maria
authors.initials: EM
authors.lastname: Pappalardo
authors.forename: Santina
authors.initials: S
authors.lastname: Ermito
authors.forename: Domenico
authors.initials: D
authors.lastname: Bizzoco
authors.forename: Gianluca
authors.initials: G
authors.lastname: Di Giacomo
authors.forename: Ivan
authors.initials: I
authors.lastname: Gabrielli
authors.forename: Alvaro
authors.initials: A
authors.lastname: Mesoraca
authors.forename: Maurizio
authors.initials: M
authors.lastname: Giorlandino
authors.forename: Claudio
authors.initials: C
authors.lastname: Giorlandino
keywords: Ring chromosome; fetal anomalies; supernumerary-chromosome