Artículos de revistas
Trisomy 16q21 -> qter: Seven-Year Follow-Up of a Girl With Unusually Long Survival
Fecha
2010Registro en:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.152A, n.8, p.2074-2078, 2010
1552-4825
10.1002/ajmg.a.33524
Autor
CARVALHO, Acacia Fernandes Lacerda de
BELLUCCO, Fernanda Teixeira da Silva
SANTOS, Normeide Pedreira dos
PELLEGRINO, Renata
MOREIRA, Lilia Maria de Azevedo
TORALLES, Maria Betania Pereira
KULIKOWSKI, Leslie Domenici
MELARAGNO, Maria Isabel
Institución
Resumen
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 BAG 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. (C) 2010 Wiley-Liss, Inc.