American Journal of Perinatology Reports · 2011 · 36 citations · 8 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsGenomicsPrenatal DiagnosisComparative Genomic HybridizationFetal AnomaliesFetal Anomaly DetectionPrenatal CytogeneticsPrenatal Genetic DiagnosisStructural Chromosome AbnormalitiesArray Comparative Genomic HybridizationArray Genomic HybridizationPostmortem Examination FindingsPrenatal Chromosomal DiagnosisPrenatal Cytogenetic DiagnosisPrenatal Diagnosis Of Chromosomal DisordersRing ChromosomesStructural Fetal Anomalies
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.
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