title: Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survival.
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.
authors.affiliation: Laboratory of Human Genetics and Mutagenesis, Department of General Biology, Universidade Federal da Bahia, Salvador, Bahia, Brazil. acaciaflc@uol.com.br
authors.forename: Acácia Fernandes Lacerda
authors.initials: AF
authors.lastname: de Carvalho
authors.forename: Fernanda Teixeira
authors.initials: FT
authors.lastname: da Silva Bellucco
authors.forename: Normeide Pedreira
authors.initials: NP
authors.lastname: dos Santos
authors.forename: Renata
authors.initials: R
authors.lastname: Pellegrino
authors.forename: Lília Maria
authors.initials: LM
authors.lastname: de Azevedo Moreira
authors.forename: Maria Betania Pereira
authors.initials: MB
authors.lastname: Toralles
authors.forename: Leslie Domenici
authors.initials: LD
authors.lastname: Kulikowski
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Melaragno
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000401:mortality; D000328:Adult; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000401:mortality; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000401:mortality; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D015996:Survival Rate; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*