Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings

• Main Authors: Chih-Ping Chen (Author), Ming Chen (Author), Yi-Ning Su (Author), Chin-Yuan Hsu (Author), Fuu-Jen Tsai (Author), Schu-Rern Chern (Author), Pei-Chen Wu (Author), Chen-Chi Lee (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2010-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To present prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 1p (1p36.23→pter) and partial trisomy 20p (20p12.1→pter) associated with ventriculomegaly, ventricular septal defect and midface hypoplasia. Materials, Methods and Results: A 31-year-old,...