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

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,...

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Auteurs principaux: Chih-Ping Chen, Ming Chen, Yi-Ning Su, Chin-Yuan Hsu, Fuu-Jen Tsai, Schu-Rern Chern, Pei-Chen Wu, Chen-Chi Lee, Wayseen Wang
Format: Artigo
Langue:Inglês
Publié: Elsevier 2010-12-01
Collection:Taiwanese Journal of Obstetrics & Gynecology
Sujets:
chromosome 1
chromosome 1p36 deletion syndrome
chromosome 20
monosomy 1p36
prenatal diagnosis
ultrasound
Accès en ligne:http://www.sciencedirect.com/science/article/pii/S1028455910601003
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