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https://repositorio.ufba.br/handle/ri/12727
metadata.dc.type: | Artigo de Periódico |
Title: | Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival |
Other Titles: | American Journal of Medical Genetics Part A |
Authors: | Carvalho, Acácia Fernandes Lacerda de Bellucco, Fernanda Teixeira da Silva Santos, Normeide Pedreira dos Pellegrino, Renata Moreira, Lília Maria de Azevedo Toralles, Maria Betânia Pereira Kulikowski, Leslie Domenici Melaragno, Maria Isabel |
metadata.dc.creator: | Carvalho, Acácia Fernandes Lacerda de Bellucco, Fernanda Teixeira da Silva Santos, Normeide Pedreira dos Pellegrino, Renata Moreira, Lília Maria de Azevedo Toralles, Maria Betânia Pereira Kulikowski, Leslie Domenici Melaragno, Maria Isabel |
Abstract: | The 16q21 → qter duplication is a chromosomal abnormality rarely found in liveborn infants, with only four published cases. We report here on the 7-year follow-up of a female patient with trisomy 16q21 → qter due to a maternal balanced translocation t(4;16)(q35.2;q21). The patient shows severe mental retardation, congenital heart malformations, nephropathy, and other congenital anomalies. The derivative chromosome was characterized by GTG banding, fluorescent in situ hybridization (FISH) with different BAC probes and the array technique, in order to map the breakpoints. The patient has a 16q21 → qter duplication, with a 4q35 → qter monosomy, which we assume does not contribute to the abnormal phenotype. This is the first reported case of postnatal survival to the age of 7 years, an unusually long time in this chromosomal syndrome. |
Keywords: | Trisomy 16q Monosomy 4q FISH Array Phenotype–karyotype correlation |
URI: | http://www.repositorio.ufba.br/ri/handle/ri/12727 |
Issue Date: | 2010 |
Appears in Collections: | Artigo Publicado em Periódico (Biologia) |
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Acácia Carvalho.pdf Restricted Access | 171,81 kB | Adobe PDF | View/Open Request a copy |
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