Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survival

American Journal of Medical Genetics. Part a
Acácia Fernandes Lacerda de CarvalhoMaria Isabel Melaragno

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.

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Sep 9, 2008·Human Genetics·Acácia Fernandes Lacerda de CarvalhoMaria Isabel Melaragno

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Citations

Aug 1, 2019·Experimental and Therapeutic Medicine·Fagui YueRuixue Wang
Jun 2, 2021·American Journal of Medical Genetics. Part a·Joshua ManorSeema R Lalani

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