Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (array-CGH) |
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Authors: | Hung Chia-Cheng Lin Chia-Hui Lin Shin-Yu Shin Jin-Chung Lee Chien-Nan Su Yi-Ning |
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Affiliation: | Graduate Institute of Clinical Genomics, National Taiwan University College of Medicine, Taipei, Taiwan. |
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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). |
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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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