Chen, Chih-Ping

3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization. [electronic resource] - Gene Dec 2013 - 80-6 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

1879-0038

10.1016/j.gene.2013.09.025 doi


Adult
Chromosome Deletion
Chromosome Duplication
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 9
Claudin-1--genetics
Claudins--genetics
Comparative Genomic Hybridization--methods
Face--abnormalities
Female
Heart Septal Defects, Ventricular--genetics
Hernia, Umbilical--genetics
Histone-Lysine N-Methyltransferase--genetics
Humans
Nuchal Translucency Measurement
Pregnancy
Pregnancy Trimester, First
Prenatal Diagnosis
Receptor, EphB3--genetics
Trisomy