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Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (array-CGH)
Authors:Hung Chia-Cheng  Lin Chia-Hui  Lin Shin-Yu  Shin Jin-Chung  Lee Chien-Nan  Su Yi-Ning
Affiliation:Graduate Institute of Clinical Genomics, National Taiwan University College of Medicine, Taipei, Taiwan.
Abstract:Trisomy 12p syndrome is a rare chromosomal abnormality, which presents with facial dysmorphism, moderate to severe psychomotor retardation and generalized hypotonia. Here we present the prenatal sonographic findings investigated of a fetus in prenatal diagnosis with a de novo trisomy of 12p identified by array-comparative genomic hybridization (aCGH).
Keywords:aCGH, array-comparative genomic hybridization   GTG-banding, G-banding by trypsin and Giemsa staining   SKY, spectral karyotyping   BAC, bacterial artificial chromosome   Mb, mega base pairs   kb, kilo base pairs   ml, milliliter   gm, gram   2D/3D, 2-dimensional/3-dimensional   FISH, fluorescence in situ hybridization
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