Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survival.
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.
de Carvalho
Acácia Fernandes Lacerda
AF
Laboratory of Human Genetics and Mutagenesis, Department of General Biology, Universidade Federal da Bahia, Salvador, Bahia, Brazil. acaciaflc@uol.com.br
da Silva Bellucco
Fernanda Teixeira
FT
dos Santos
Normeide Pedreira
NP
Pellegrino
Renata
R
de Azevedo Moreira
Lília Maria
LM
Toralles
Maria Betania Pereira
MB
Kulikowski
Leslie Domenici
LD
Melaragno
Maria Isabel
MI
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*