Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization

Pietro Cignini; Angela Dinatale; Laura D'Emidio; Annamaria Giacobbe; Elisa Maria Pappalardo; Santina Ermito; Domenico Bizzoco; Gianluca Di Giacomo; Ivan Gabrielli; Alvaro Mesoraca; Maurizio Giorlandino; Claudio Giorlandino

doi:10.1055/s-0031-1274512

American Journal of Perinatology Reports, Inhaltsverzeichnis

AJP Rep 2011; 01(01): 029-032
DOI: 10.1055/s-0031-1274512

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization

Authors

Pietro Cignini

¹“Artemisia” Fetal–Maternal Medical Centre, Department of Prenatal Diagnosis, Rome
Angela Dinatale

²Operative Unit of Obstetrics and Gynecology, Policlinico Universitario “G. Martino,” Messina
Laura D'Emidio

¹“Artemisia” Fetal–Maternal Medical Centre, Department of Prenatal Diagnosis, Rome
Annamaria Giacobbe

²Operative Unit of Obstetrics and Gynecology, Policlinico Universitario “G. Martino,” Messina
Elisa Maria Pappalardo

³Department of Gynaecology and Obstetrics, ARNAS, Garibaldi Nesima Hospital, Catania
Santina Ermito

¹“Artemisia” Fetal–Maternal Medical Centre, Department of Prenatal Diagnosis, Rome
Domenico Bizzoco

⁴Department of Genetics and Molecular Biology, “Artemisia” Fetal-Maternal Medical Centre, Rome, Italy
Gianluca Di Giacomo

⁴Department of Genetics and Molecular Biology, “Artemisia” Fetal-Maternal Medical Centre, Rome, Italy
Ivan Gabrielli

⁴Department of Genetics and Molecular Biology, “Artemisia” Fetal-Maternal Medical Centre, Rome, Italy
Alvaro Mesoraca

⁴Department of Genetics and Molecular Biology, “Artemisia” Fetal-Maternal Medical Centre, Rome, Italy
Maurizio Giorlandino

¹“Artemisia” Fetal–Maternal Medical Centre, Department of Prenatal Diagnosis, Rome
Claudio Giorlandino

¹“Artemisia” Fetal–Maternal Medical Centre, Department of Prenatal Diagnosis, Rome

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.

Keywords

Ring chromosome - supernumerary-chromosome - fetal anomalies

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Referenzen

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