Prenatal diagnosis of a partial trisomy 13q (q14→qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of a partial trisomy 13q (q14-->qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization.
Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We report prenatal diagnosis of partial trisomy 13q in a fetus with partial agenesis of the cerebellar vermis, partial agenesis of the corpus callosum, hydrops and polyhydramnios. G-banding karyotyping, spectral karyotyping and array comparative genomic hybridization (aCGH) analysis of fetal blood we...
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ژورنال
عنوان ژورنال: Genetics and Molecular Research
سال: 2010
ISSN: 1676-5680
DOI: 10.4238/vol9-1gmr716