American Journal of Medical Genetics Part A
| Autor: | 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 |
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| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: | |
| Zdroj: | Repositório Institucional da UFBA Universidade Federal da Bahia (UFBA) instacron:UFBA |
| DOI: | 10.1002/ajmg.a.33524 |
| Popis: | Texto completo: acesso restrito. p.2074–2078 Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2013-08-23T12:59:51Z No. of bitstreams: 1 Acácia Carvalho.pdf: 175934 bytes, checksum: 549fddc9814df418d5e77e39f0b6408c (MD5) Approved for entry into archive by Alda Lima da Silva(sivalda@ufba.br) on 2013-08-23T22:04:48Z (GMT) No. of bitstreams: 1 Acácia Carvalho.pdf: 175934 bytes, checksum: 549fddc9814df418d5e77e39f0b6408c (MD5) Made available in DSpace on 2013-08-23T22:04:48Z (GMT). No. of bitstreams: 1 Acácia Carvalho.pdf: 175934 bytes, checksum: 549fddc9814df418d5e77e39f0b6408c (MD5) Previous issue date: 2010 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. |
| Databáze: | OpenAIRE |
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